2024年3月

Invitae遺伝学的検査項目一覧表

フィンガルリンク株式会社
1

【目次】【保険診療受託測定項目】····································3【保険診療外受託測定項目】腫瘍学························9【保険診療外受託測定項目】遺伝性腫瘍················ 11【保険診療外受託測定項目】心臓疾患··················· 13【保険診療外受託測定項目】皮膚疾患··················· 14【保険診療外受託測定項目】内分泌学··················· 15【保険診療外受託測定項目】血液疾患··················· 15【保険診療外受託測定項目】免疫疾患··················· 16【保険診療外受託測定項目】代謝/新生児··············· 18【保険診療外受託測定項目】眼科························· 25【保険診療外受託測定項目】腎臓学······················ 27【保険診療外受託測定項目】神経疾患··················· 29【保険診療外受託測定項目】小児遺伝学················ 34
Family Variant Test ············································ 442

【保険診療受託測定項目】
TestCode

疾患名

項目名

Gene List

希望納入価

FL3001

栄養障害型
表皮水疱症

Epidermolysis Bullosa(栄養障害型表皮水疱症)

COL7A1¥80,000

FL3002

先天性QT延長症候群

Long QT Syndrome(先天性QT延長症候群)

CACNA1C, CALM1, CALM2,
CALM3, KCNE1, KCNH2, KCNJ2,
KCNQ1, SCN5A, TRDN, AKAP9,
ANK2, CAV3, KCNE2, KCNJ5,
SNTA1, SCN4B¥80,000

FL3003神経有棘赤血球症

Acanthocytosis(有棘赤血球舞踏病)

VPS13A¥80,000

FL3004

神経有棘赤血球症

McLeod syndrome(Mcleod症候群)

XK¥80,000¥80,000

FL3005先天性筋無力症候群

Congenital Myasthenic Syndromes(先天性筋無力症候群)

CHRNA1, CHRNB1, CHRND,
CHRNE, COLQ, AGRN, LRP4,
LABM2, MUSK, RAPSN, DOK7,
CHAT, SCN4A, GFPT1, DPAGT1,
ALG2, ALG14, PLEC, PREPL

FL3006ペリー症候群

Perry syndrome(ペリー症候群)

DCTN1¥80,000

FL3007クルーゾン症候群

Crouzon syndrome(クルーゾン症候群)

FGFR2, FGFR3¥80,000

FL3008

ファイファー症候群

Pfeiffer syndrome(ファイファー症候群)

FGFR1, FGFR2¥80,000

FL3009アントレー・
ビクスラー症候群

Antley-Bixler syndrome(アントレー・ビクスラー症候群)

FGFR2, POR¥80,000

FL3010タンジール病

Tangier disease(タンジール病)

ABCA1¥80,000

FL3011

先天性赤血球形成異常性貧血

Congenital Dyserythropoietic Anemia (CDA)(先天性赤血球形成異常性貧血)

CDAN1, SEC23B, KIF23, KLF1,
GATA1¥80,000

FL3012若年発症型
両側性感音難聴

Sensorineural hearing loss (SNHL)(若年発症型両側性感音難聴)

FL3013

マルファン症候群

Marfan Syndrome(マルファン症候群)

FBN1, TGFBR1, TGFBR2,
SMAD3, TGFB2, TGFB3¥80,000

血管型エーラス
ダンロス症候群

Ehlers-Danlos Syndrome(エーラスダンロス症候群（血管型、古典型、関節型、後側彎型）)COL5A1, COL5A2, COL3A1,
PLOD1, ADAMTS2, CHST14,
FKBP14, ATP7A, B3GALT6,B4GALT7, COL12A1. COL1A1,
COL1A2, CRTAP, FLNA, P3H1,
SLC39A13¥80,000

FL3014

ACTG1,CDH23, COCH, KCNQ4,¥80,000
TECTA, TMPRSS3, WFS1

3

TestCode

疾患名

項目名

Gene List

希望納入価

FL3015

遺伝性自己炎症疾患

Hereditary autoinflammatory disease(遺伝性自己炎症疾患)

NLRC4, TREX1, RNASEH2B,
RNASEH2C, RNASEH2A, SAMHD1,
ADAR, IFIH1, ADA2, TNFAIP3,
TREX1¥80,000

FL3016

エプスタイン症候群

Epstein syndrome(エプスタイン症候群)

MYH9¥80,000

FL3017

ドラベ症候群

Dravet syndrome(ドラベ症候群)

SCN1A, SCN1B, SCN2A, GABRG2¥80,000

FL3018コフィン・
シリス症候群

Coffin-Siris syndrome(コフィン・シリス症候群(CSS))

ARID1A, ARID1B, SMARCB1,SMARCA4, SMARCE1, PHF6,
SOX11¥80,000

FL3019

歌舞伎症候群

Kabuki Syndrome(歌舞伎症候群(KS))

KMT2D, KDM6A¥80,000

FL3020

肺胞蛋白症（自己免疫性又は先天性）

Pulmonary alveolar proteinosis(肺胞蛋白症（自己免疫性又は先天性)

CSF2RA, SFTPB, SFTPC, ABCA3,
CSF2RB, NKX2-1, FOXF1, GATA2,
OAS1, FARSB, TBX4

¥80,000

FL3021

ヌーナン症候群

Noonan Syndrome(ヌーナン症候群)

PTPN11,SOS1,RAF1,RIT1,KRAS,N
RAS,SHOC2,CBL,BRAF,
HRAS,MAP2K1,MAP2K2¥80,000¥80,000

FL3022

骨形成不全症

Osteogenesis Imperfecta and Bone Fragility(骨形成不全症)

BMP1,COL1A1,COL1A2,CRTAP,FK
BP10,IFITM5,P3H1,PPIB,SERPINF1, SERPINH1,SP7,TMEM38B,WNT1,SPARC,
FAM46A,MBTPS2,MESDC2FL3023

非典型溶血性
尿毒症症候群

Atypical Hemolytic Uremic Syndrome(非典型溶血性尿毒症症候群)

CFH, CFI, CD46, C3, CFB, THBD,
DGKE¥80,000

FL3024

アルポート症候群

Alport Syndrome(アルポート症候群)

COL4A5, COL4A3, COL4A4¥80,000

FL3025

ファンコニ貧血

Fanconi anemia(ファンコニ貧血)

FANCA , FANCB , FANCC , BRCA2, FANCD2, FANCE, FANCF,FANCG, FANCI, BRIP1, FANCL,FANCM , PALB2, RAD51C, SLX4,
XPF, RAD51, BRCA1, UBE2T¥80,000

FL3026

遺伝性鉄芽球性貧血

Sideroblastic anemia(遺伝性鉄芽球性貧血)

ALAS2, SLC25A38, PUS1, ABCB7,
GLRX5, SLC19A2¥80,000

FL3027

アラジール症候群

Alagille Syndrome(アラジール症候群)

JAG1, NOTCH2¥80,000

FL3028ルビンシュタイン・テイビ
症候群

Rubinstein-Taybi Syndrome(ルビンシュタイン・テイビ症候群)

CREBBP, EP300¥80,000

FL3029外胚葉形成不全
免疫不全症

PID_Ectodermal dysplasia(外胚葉形成不全)NFKBIA, IKBKB, ORAI1¥80,000
4

TestCode

疾患名

項目名

Gene List

希望納入価

FL3030

原発性免疫不全症候群

PID_Familial hemophagocytic lymphocytosis(家族性血球貪食性リンパ組織球症)

PRF1, UNC13D, STX11, STXBP2,SLC7A7, LYST, RAB27A, AP3B1,
AP3D1, SH2D1A, XIAP

¥80,000

FL3031

原発性免疫不全症候群

PID_Autoimmune lymphoproliferative syndrome(自己免疫性リンパ増殖症候群)

FAS, FASLG, CASP8, CASP10,
NRAS, KRAS, AIRE, FOXP3, IL2RA,
CTLA4, LRBA,STAT3, SH2D1A,¥80,000
IKZF1, PIK3CD, PIK3R1, PRKCD,TNFAIP3

FL3032

原発性免疫不全症候群

PID_Inflammatory bowel disease(炎症性腸疾患)

IL10, IL10RA, IL10RB,
NFAT5,TGFB1, RIPK1, FOXP3,
IL2RA, CTLA4, LRBA, WAS, XIAP,CYBA, CYBB, NCF2, NCF4,TNFAIP3

FL3033

原発性免疫不全症候群

PID_Chronic granulomatous disease(慢性肉芽腫症)

CYBB,CYBA,NCF2,NCF4,G6PD¥80,000

FL3034

原発性免疫不全症候群

PID_TLR dysplasia(TLR 異常症)

IRAK4, MYD88, NFKBIA, IKBKB,RPSA, NKX2-5, RBCK1¥80,000

FL3035

原発性免疫不全症候群

Severe Combined Immunodeficiency (panel1)(重症複合免疫不全症)

IL2RG,JAK3,IL7R,RAG1,RAG2,DCL
RE1C,ADA,PNP,ZAP70,LIG4,NHEJ
1,TBX1¥80,000

FL3036

原発性免疫不全症候群

Severe Combined Immunodeficiency (panel2)(重症複合免疫不全症)

AK2,CORO1A,FOXN1,PRKDC,PTP
RC,STAT5B,ORAI1,STIM1,MAGT1,
RAC2,CHD7,SEMA3E,POLE,ATM,C
D3D,CD3E, CD247,LAT¥80,000

FL3037

原発性免疫不全症候群

PID_MHC deficiency(MHC 欠損症)

TAP1,TAP2,B2M,CIITA,RFXANK,RF
X5,RFXAP¥80,000¥80,000¥80,000

FL3038

原発性免疫不全症候群

Unclassifiable immunodeficiency (panel1)(分類不能型免疫不全症)

TNFSF12,TNFRSF13B,TNFRSF13C,CD19,CR2,PLCG2,IKZF1,NFKB1,N
FKB2,SEC61A1,IRF2BP2,ATP6AP1,SH3KBP1,ARHGEF1,DNMT3B,ZBT
B24,CDCA7,HELLSFL3039原発性免疫不全症候群

Unclassifiable immunodeficiency (panel2)(分類不能型免疫不全症)

ICOS,PLCG2,LRBA,CTLA4,IL21R,M
ALT1,MSN,CARD11,BCL10,ITK,PIK
3CD,PIK3R1,NFKB1,NFKB2¥80,000

FL3040

原発性免疫不全症候群

PID_Neutropenia (panel1)(好中球減少症(panel1))

ELANE,HAX1,WAS,CSF3R,SRP54,CXCR4¥80,000

FL3041

原発性免疫不全症候群

PID_Neutropenia (panel 2)(好中球減少症(panel2))

GFI1,G6PC3,SLC37A4,TAZ,VPS13
B,USB1,JAGN1,CLPB¥80,000

FL3042

原発性免疫不全症候群

PID_High IgE Syndrome(高 IgE 症候群)

STAT3,TYK2,IL6R,ZNF341,ERBIN,T
GFBR1,TGFBR2,SPINK5,PGM3,CA
RD11,DOCK8¥80,000

FL3043

原発性免疫不全症候群

PID_Chronic cutaneous mucosal candidiasis(慢性皮膚粘膜カンジダ症)

IL17RA,IL17F,STAT1,TRAF3IP2,RO
RC,AIRE,STAT3,IL12RB1,IL12B,CA
RD9¥80,000

FL3044

原発性免疫不全症候群

PID_B cell defects(B細胞欠損症)

BTK,IGLL1,CD79A,BLNK,PIK3CD,P
IK3R1,TCF3,SLC39A7,TRNT1,IKZF
1¥80,000
5

TestCode

疾患名

項目名

Gene List

FL3045

原発性免疫不全症候群

PID_Prosthetic Deficiency (panel1)(補体欠損症)

FL3046

原発性免疫不全症候群

PID_Prosthetic defects(panel2)(補体欠損症)（遺伝性血管性浮腫含む）

SERPING1,F12,ANGPT1,PLG,CD5
5,CD59¥80,000

FL3047

原発性免疫不全症候群

PID_Congenital immune def. syndrome
先天性免疫不全症候群(ウイルス易感染性）

STAT1,STAT2,IRF7,IFNAR1,IFIH1,T
LR3,TBK1,DBR1,IRF8,MCM4,TMC6,TMC8,CXCR4¥80,000

FL3048

原発性免疫不全症候群

PID_Mendel‘s Genotype Mycobacteria Infect(メンデル遺伝型マイコバクテリア易感染症)

IL12RB1, IL12B, IL12RB2, IL23R,
IFNGR1, IFNGR2, STAT1, CYBB,
IRF8, TYK2, RORC, JAK1, GATA2¥80,000

FL3049原発性免疫不全症候群

PID_High IgM Syndrome(高IgM 症候群)

CD40LG, AICDA, CD40, UNG,PIK3CD, PIK3R1, PTEN

¥80,000

FL3050

原発性免疫不全症候群

PID_IPEX syndrome(IPEX 症候群)

FOXP3, IL2RA, IL2RB, CTLA4,
LRBA, STAT3, FERMT1,STAT1,
STAT5B¥80,000

FL3051

原発性免疫不全症候群

PID_Wiskott-Aldrich syndrome(ウィスコットアルドリッチ症候群)

WAS, ARPC1B, CDC42, WIPF1¥80,000

FL3052

原発性免疫不全症候群

PID_Dyskeratosis congenital(先天性角化異常症)

DKC1, TERC, TERT, TINF2, RTEL1,
ACD, WRAP53, PARN, CTC1,
DCLRE1C¥80,000

FL3053

原発性免疫不全症候群

PID_Familial dendritic cell deficiency(家族性樹状細胞欠損症)

GATA2, CSF2RA, CSF2RB, IRF7,
IRF8¥80,000

FL3054

原発性免疫不全症候群

PID Immunodeficiency with osteogenesisimperf.
(骨形成不全を伴う免疫不全症)

SMARCAL1, RNU4ATAC, EXTL3¥80,000

FL3055

原発性免疫不全症候群

PID_DNA repair disorders(DNA 修復異常症)

ATM, MRE11, NBN, RAD50, LIG4,
NHEJ1, DCLRE1C, PRKDC,
DNMT3B, ZBTB24, CDCA7, HELLS,
RNF168, MCM4, BLM¥80,000

FL3056

原発性免疫不全症候群

PID_EB virus-related lymphoproliferative dis(EB ウイルス関連リンパ増殖性疾患)

SH2D1A, XIAP, CD27, RASGRP1,CARMIL2, MAGT1, PRKCD, STK4,
ITK, ZAP70, MCM4, PIK3CD,
PIK3R1, NFKB1, CTLA4, PRF1,STXBP2, FAS¥80,000

FL3057

原発性免疫不全症候群

PID_Leukocyte insufficiency(白血球粘着不全症)

ITGB2, SLC35C1, FERMT3,RASGRP2¥80,000

FL3058

原発性免疫不全症候群

PID_Phagocytic dysfunction(食細胞機能異常症)

RAC2, ACTB, FPR1, CTSC, WDR1,
MKL1, CEBPE, G6PD

¥80,000

希望納入価

C1QA,C1QB,C1QC,C1R,C1S,C2,C3,C5,C6,C7,C8A,C8B,C9,CFB,CFI,CF ¥80,000
P,MASP2,MBL2

6

TestCode

疾患名

項目名

Gene List

希望納入価

FL3059尿素サイクル
異常症

Urea Cycle Disorders_OTC(尿素サイクル異常症)

OTC, NAGS, CPS1, SLC25A15,
ARG1, ASS1, ASL¥80,000

FL3060フェニルケトン尿症

Urea Cycle Disorders_PKU(フェニルケトン尿症検査)

PAH, GCH1, PCBD1,PTS, QDPR,
SPR, DNAJC12¥80,000

FL3061

メープル
シロップ尿症

Urea Cycle Disorders_MSUD(メープルシロップ尿症検査)

BCKDHA, BCKDHB, DBT, DLD¥80,000

FL3062ホモシスチン尿症

Urea Cycle Disorders_Homocystinuria(ホモシスチン尿症検査)

CBS, MTRR, MTR, MMACHC,
MMADHC, LMBRD1, MTHFR¥80,000

FL3063

シトルリン血症（Ⅰ型）

Urea Cycle Disorders_Citrullinemia(シトルリン血症（I 型）検査)

ASS1, SLC25A13, ASL¥80,000

FL3064

アルギノコハク
酸血症

Urea Cycle Disorders_Arginosuccinic acidemia(アルギノコハク酸血症)

ASL¥80,000

FL3065メチルマロン酸血症

Urea Cycle Disorders_Methylmalonic acidemia(メチルマロン酸血症検査)

MUT, PCCA, PCCB, ABCD4,
HCFC1, LMBRD1, MMAA, MMAB,
MMACHC, MMADHC¥80,000

FL3066

プロピオン酸血症

Urea Cycle Disorders_Propionic acidemia(プロピオン酸血症検査)

MUT, PCCA, PCCB

¥80,000

FL3067

イソ吉草酸血症

Urea Cycle Disorders_Isovaleric acidemia(イソ吉草酸血症検査)

IVD¥80,000

FL3068メチルクロトニルグリシン尿症

Urea Cycle Disorders_MGC(メチルクロトニルグリシン尿症検査)

MCCC1, MCCC2¥80,000

FL3069

HMG血症

Urea Cycle Disorders_HMG-CoA reductase
HMG 血症(HMG-CoA リアーゼ欠損症）

HMGCL¥80,000

FL3070複合カルボキシラーゼ欠損症

Urea Cycle Disorders_Complex carboxylase def(複合カルボキシラーゼ欠損症)

HLCS, BTD

¥80,000

FL3071

グルタル酸血症(Ⅰ型）

Urea Cycle Disorders_Glutaric acidemia type1(グルタル酸血症 I 型)

GCDH

¥80,000

FL3072

MCAD欠損症

Urea Cycle Disorders_MCAD(中鎖アシル CoA 脱水素酵素欠損症)

ACADM¥80,000

FL3073VLCAD欠損症

Urea Cycle Disorders_VLCAD(極長鎖アシル CoA 脱水素酵素欠損症)

ACADVL

¥80,000
7

TestCode

疾患名

項目名

Gene List

希望納入価

FL3074

MTP(LCHAD)
欠損症

Urea Cycle Disorders_MTP(三頭酵素欠損症)

HADHA, HADH, ACADVL¥80,000

FL3075

CPT1欠損症

Urea Cycle Disorders_CPT1(カルニチンパルミトイルトランスフェラーゼ１欠損症)

CPT1A, CPT2, SLC25A20,
SLC22A5¥80,000

FL3076

先天性銅代謝異常症

Urea Cycle Disorders_Wilson disease(先天性銅代謝異常症検査)

ATP7A, ATP7B¥80,0008

【保険診療外受託測定項目】

Test
Code 疾患群

項目名Gene List

1101

腫瘍学

Invitaeマルチがんパネル
Invitae Multi-Cancer Panel

AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73,
CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EPCAM, FH, FLCN, GREM1,
HOXB13, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1,
NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C,
RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1,SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

1102

腫瘍学

Invitae 一般的遺伝性がんパネル
Invitae Common Hereditary Cancers Panel

APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A,
CHEK2, CTNNA1, DICER1, EPCAM, FH, GREM1, HOXB13, KIT, MBD4, MEN1, MLH1, MSH2,
MSH3, MSH6, MUTYH, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD51C,
RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL

50001

腫瘍学

Invitae乳がんSTATパネル
Invitae Breast Cancer STAT Panel

BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

50002

腫瘍学

InvitaeBRCA1およびBRCA2 STATパネル
Invitae BRCA1 and BRCA2 STAT Panel

BRCA1, BRCA2

1201

腫瘍学

Invitae 遺伝性乳がんおよび婦人科がんパネル
Invitae Hereditary Breast and Gyn Cancers
PanelATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6,
NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMARCA4, STK11, TP53

1204

腫瘍学

Invitae乳がんおよび婦人科がんガイドラインベ
ースパネルATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PALB2,
PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Invitae Breast and Gyn Cancers GuidelinesBased Panel

1206

腫瘍学

Invitae 遺伝性乳がんガイドラインに基づくパネル
Invitae Hereditary Breast Cancer GuidelinesBased Panel

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11,
TP53

1251

腫瘍学

Invitae 遺伝性結腸直腸がんパネル
Invitae Hereditary Colorectal Cancer Panel

APC, AXIN2, BLM, BMPR1A, CHEK2, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6,
MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

1252

腫瘍学

Invitae結腸直腸癌ガイドラインベースパネル
Invitae Colorectal Cancer Guidelines-Based
Panel

APC, AXIN2, BMPR1A, CHEK2, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH,
NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

1271

腫瘍学

Invitae 遺伝性胃がんパネル
Invitae Hereditary Gastric Cancer Panel

APC, ATM, BMPR1A, CDH1, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, NF1, PDGFRA, PMS2,RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

1302

腫瘍学

Invitae遺伝性傍神経節腫-褐色細胞腫パネル
Invitae Hereditary
Paraganglioma-Pheochromocytoma Panel

FH, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

1411

腫瘍学

Invitae 遺伝性骨髄異形成症候群/白血病パネル
Invitae Myelodysplastic Syndrome/Leukemia
Panel

ANKRD26, ATM, BLM, CBL, CEBPA, DDX41, ELANE, EPCAM, ERCC6L2, ETV6, G6PC3, GATA2,
GFI1, HAX1, IKZF1, KRAS, MECOM, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTPN11, RTEL1,
RUNX1, SAMD9, SAMD9L, SRP72, TERC, TERT, TP53

9

1461

腫瘍学

Invitae 遺伝性神経系/脳腫瘍パネル
Invitae Hereditary Nervous System/Brain
Cancer Panel

AIP, ALK, APC, CDKN1B, CDKN1C, CDKN2A, DICER1, EPCAM, FH, GPC3, HRAS, LZTR1, MAX,
MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN,
RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, SMARCE1, SUFU,TMEM127, TP53, TSC1, TSC2, VHL

1261

腫瘍学

Invitae 遺伝性膵臓がんパネル
Invitae Hereditary Pancreatic Cancer Panel

APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2,
STK11, TP53, TSC1, TSC2, VHL

1362

腫瘍学

Invitae 遺伝性前立腺がんパネル
Invitae Hereditary Prostate Cancer Panel

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, TP53

1361

Invitae 遺伝性腎/尿路がんパネル
BAP1, BLM, BUB1B, CDC73, CDKN1C, CEP57, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, MET,
腫瘍学 Invitae Hereditary Renal/Urinary Tract Cancers MLH1, MSH2, MSH6, PMS2, PTEN, REST, SDHB, SDHC, SMARCA4, SMARCB1, TP53, TRIM28,
Panel
TRIP13, TSC1, TSC2, VHL, WT1

1511

腫瘍学

Invitae肉腫パネル
Invitae Sarcoma Panel

APC, BLM, CDKN1C, DICER1, EPCAM, EXT1, EXT2, FH, HRAS, KIT, MLH1, MSH2, MSH6, NBN,
NF1, PDGFRA, PMS2, POT1, PRKAR1A, PTCH1, RB1, RECQL4, SDHA, SDHB, SDHC, SDHD,
SUFU, TP53, WRN

1703
1301

腫瘍学

Invitae体質ミスマッチ修復 - 欠損パネル
Invitae
遺伝性甲状腺がんパネル
InvitaeConstitutional
Mismatch RepairInvitae Hereditary Thyroid Cancer Panel
Deficiency Panel

EPCAM,
MLH1,
MSH2, MSH6,PMS2TP53, WRN
APC, CHEK2,DICER1,
PRKAR1A,
PTEN, RET,

1712

Invitae家族性消化管間質腫瘍症候群パネル
腫瘍学 Invitae Familial Gastrointestinal Stromal Tumor
Syndrome Panel

KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD

腫瘍学

Invitae BRCA1/2パネル
Invitae BRCA1/2 Panel

BRCA1, BRCA2

1707

腫瘍学

Invitae遺伝性びまん性胃がん症候群検査
Invitae Hereditary Diffuse Gastric Cancer
Syndrome Test

CDH1

1711

腫瘍学

Invitae 若年性ポリポーシス症候群パネル
Invitae Juvenile Polyposis Syndrome PanelBMPR1A, SMAD4

1742

腫瘍学

Invitae 遺伝性ウィルムス腫瘍パネル
Invitae Hereditary Wilms Tumor Panel

BLM, BUB1B, CDC73, CDKN1C, CEP57, DICER1, DIS3L2, GPC3, REST, TP53, TRIM28, TRIP13,
WT1

1714

腫瘍学

Invitaeラブドイド腫瘍素因症候群パネル
Invitae Rhabdoid Tumor Predisposition
Syndrome Panel

SMARCA4, SMARCB1

1303

腫瘍学

Invitae 遺伝性副甲状腺機能亢進症パネル
Invitae Hereditary Hyperparathyroidism Panel

AP2S1, CASR, CDC73, CDKN1B, GNA11, MEN1, RET, TRPV6

1701

10

1101

遺伝性
腫瘍

Invitaeマルチがんパネル
Invitae Multi-Cancer Panel

AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73,
CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EPCAM, FH, FLCN, GREM1,
HOXB13, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1,
NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C,
RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1,SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

1102

遺伝性
腫瘍

Invitae 一般的遺伝性がんパネル
Invitae Common Hereditary Cancers Panel

APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A,
CHEK2, CTNNA1, DICER1, EPCAM, FH, GREM1, HOXB13, KIT, MBD4, MEN1, MLH1, MSH2,
MSH3, MSH6, MUTYH, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD51C,
RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL

50001

遺伝性
腫瘍

Invitae乳がんSTATパネル
Invitae Breast Cancer STAT Panel

BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

50002

遺伝性
腫瘍

InvitaeBRCA1およびBRCA2STATパネル
Invitae BRCA1 and BRCA2 STAT Panel

BRCA1, BRCA2

1104

遺伝性
Invitae 遺伝性小児固形腫瘍パネル
腫瘍 Invitae Hereditary Pediatric Solid Tumors Panel

AIP, ALK, APC, BAP1, BLM, BMPR1A, BUB1B, CDC73, CDK4, CDKN1B, CDKN1C, CDKN2A,
CEP57, DICER1, DIS3L2, EPCAM, EXT1, EXT2, FH, GPC3, HRAS, LZTR1, MAX, MEN1, MITF,
MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, RB1,
RECQL4, REST, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1,SMARCE1, STK11, SUFU, TMEM127, TP53, TRIM28, TRIP13, TSC1, TSC2, VHL, WRN, WT1

1201

遺伝性
腫瘍

Invitae 遺伝性乳がんおよび婦人科がんパネル
Invitae Hereditary Breast and Gyn Cancers
PanelATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6,
NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMARCA4, STK11, TP53

1202

遺伝性
腫瘍

Invitae 遺伝性乳がんパネル
Invitae Hereditary Breast Cancer Panel

ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11,
TP53

1251

遺伝性
腫瘍

Invitae 遺伝性結腸直腸がんパネル
Invitae Hereditary Colorectal Cancer Panel

APC, AXIN2, BLM, BMPR1A, CHEK2, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6,
MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

1271

遺伝性
腫瘍

Invitae 遺伝性胃がんパネル
Invitae Hereditary Gastric Cancer Panel

APC, ATM, BMPR1A, CDH1, CTNNA1, EPCAM, KIT, MLH1, MSH2, MSH6, NF1, PDGFRA, PMS2,RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

1302

遺伝性
腫瘍

Invitae遺伝性傍神経節腫-褐色細胞腫パネル
Invitae Hereditary ParagangliomaPheochromocytoma Panel

FH, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

1303

遺伝性
腫瘍

Invitae 遺伝性副甲状腺機能亢進症パネル
Invitae Hereditary Hyperparathyroidism Panel

AP2S1, CASR, CDC73, CDKN1B, GNA11, MEN1, RET, TRPV6

1411

遺伝性
腫瘍

Invitae 遺伝性骨髄異形成症候群/白血病パネル ANKRD26, ATM, BLM, CBL, CEBPA, DDX41, ELANE, EPCAM, ERCC6L2, ETV6, G6PC3, GATA2,
Invitae Hereditary Myelodysplastic
GFI1, HAX1, IKZF1, KRAS, MECOM, MLH1, MSH2, MSH6, NBN, NF1, PMS2, PTPN11, RTEL1,
Syndrome/Leukemia PanelRUNX1, SAMD9, SAMD9L, SRP72, TERC, TERT, TP53

1461

遺伝性
腫瘍

Invitae 遺伝性神経系/脳腫瘍パネル
Invitae Hereditary Nervous System/Brain
Cancer Panel

AIP, ALK, APC, CDKN1B, CDKN1C, CDKN2A, DICER1, EPCAM, FH, GPC3, HRAS, LZTR1, MAX,
MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN,
RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, SMARCE1, SUFU,TMEM127, TP53, TSC1, TSC2, VHL

1261

遺伝性
腫瘍

Invitae 遺伝性膵臓がんパネル
Invitae Hereditary Pancreatic Cancer Panel

APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PMS2,
STK11, TP53, TSC1, TSC2, VHL

11

1703

遺伝性
腫瘍

Invitae体質ミスマッチ修復 - 欠損パネル
Invitae Constitutional Mismatch RepairDeficiency Panel

EPCAM, MLH1, MSH2, MSH6, PMS2

1707

遺伝性
腫瘍

Invitae遺伝性びまん性胃がん症候群検査
Invitae Hereditary Diffuse Gastric Cancer
Syndrome Test

CDH1

1362

遺伝性
腫瘍

Invitae 遺伝性前立腺がんパネル
Invitae Hereditary Prostate Cancer Panel

1361

Invitae 遺伝性腎/尿路がんパネル
BAP1, BLM, BUB1B, CDC73, CDKN1C, CEP57, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, MET,
遺伝性
Invitae Hereditary Renal/Urinary Tract Cancers MLH1, MSH2, MSH6, PMS2, PTEN, REST, SDHB, SDHC, SMARCA4, SMARCB1, TP53, TRIM28,
腫瘍
Panel
TRIP13, TSC1, TSC2, VHL, WT1

1511

遺伝性
腫瘍

Invitae肉腫パネル
Invitae Sarcoma Panel

APC, BLM, CDKN1C, DICER1, EPCAM, EXT1, EXT2, FH, HRAS, KIT, MLH1, MSH2, MSH6, NBN,
NF1, PDGFRA, PMS2, POT1, PRKAR1A, PTCH1, RB1, RECQL4, SDHA, SDHB, SDHC, SDHD,
SUFU, TP53, WRN

1301

遺伝性
腫瘍

Invitae 遺伝性甲状腺がんパネル
Invitae Hereditary Thyroid Cancer Panel

APC, CHEK2, DICER1, PRKAR1A, PTEN, RET, TP53, WRN

444743

遺伝性腫瘍

Invitae DNA損傷修復パネル
Invitae DNA Damage Repair Panel

ARID1A, ATM, ATR, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, ERCC4,FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GEN1, MLH1,
MRE11, MSH2, MSH6, NBN, PALB2, PMS2, RAD50, RAD51, RAD51C, RAD51D, SLX4, WRN,
XRCC2

1701

遺伝性
腫瘍

Invitae BRCA1/2パネル
Invitae BRCA1/2 Panel

BRCA1, BRCA2

1712

Invitae家族性消化管間質腫瘍症候群パネル
遺伝性
Invitae Familial Gastrointestinal Stromal Tumor
腫瘍
Syndrome Panel

1711

遺伝性
腫瘍

Invitae若年性ポリポーシス症候群パネル
Invitae Juvenile Polyposis Syndrome PanelBMPR1A, SMAD4

1714

遺伝性
腫瘍

Invitaeラブドイド腫瘍素因症候群パネル
Invitae Rhabdoid Tumor Predisposition
Syndrome Panel

SMARCA4, SMARCB1

1742

遺伝性
腫瘍

Invitae 遺伝性ウィルムス腫瘍パネル
Invitae Hereditary Wilms Tumor Panel

BLM, BUB1B, CDC73, CDKN1C, CEP57, DICER1, DIS3L2, GPC3, REST, TP53, TRIM28, TRIP13,
WT1

57002

遺伝性
腫瘍

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, TP53

KIT, NF1, PDGFRA, SDHA, SDHB, SDHC, SDHD

Invitae 遺伝性神経内分泌腫瘍および副腎皮質癌パネル
APC, CDKN1B, CDKN1C, EPCAM, FH, MAX, MEN1, MLH1, MSH2, MSH6, NF1, PMS2, PRKAR1A,
RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL
Invitae Hereditary Neuroendocrine Tumors
and Adrenocortical Carcinoma Panel12【保険診療外受託測定項目】

Test
疾患群
Code

項目名

Gene List

2101

心臓疾患

Invitae不整脈と心筋症総合パネル
Invitae Arrhythmia and Cardiomyopathy
Comprehensive Panel

ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CACNA1D,
CALM1, CALM2, CALM3, CASQ2, CBL, CDH2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK,
DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GJA5,
GLA, HCN4, HRAS, JUP, KCNE1, KCNH2, KCNJ2, KCNQ1, KRAS, LAMP2, LMNA, LZTR1, MAP2K1,
MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYL4, MYLK3, NF1, NKX2-5, NRAS, PCCA,
PCCB, PKP2, PLN, PPA2, PPCS, PPP1CB, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RYR2,SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TMEM43,
TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL

2212

心臓疾患

Invitaeブルガダ症候群検査
Invitae Brugada Syndrome Test

SCN5A

2213

心臓疾患

Invitaeカテコラミン誘発多形性心室頻拍
パネル
Invitae Catecholaminergic Polymorphic
Ventricular Tachycardia PanelCALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN

2211

心臓疾患

InvitaeQT延長症候群パネル
Invitae Long QT Syndrome Panel

CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN

2214

心臓疾患

Invitae QT短縮症候群パネル
Invitae Short QT Syndrome PanelKCNH2, KCNJ2, KCNQ1

2263

心臓疾患

Invitae不整脈源性心筋症パネル
Invitae Arrhythmogenic Cardiomyopathy
Panel

ACTN2, BAG3, CDH2, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LMNA, PKP2, PLN, PPA2,
PRKAG2, RBM20, RYR2, SCN5A, TMEM43, TNNI3, TNNT2, TTN

Invitae心筋症総合パネル
Invitae Cardiomyopathy Comprehensive
Panel

ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CBL, CPT2,CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1,
FKRP, FKTN, FLNC, GAA, GLA, HCN4, HRAS, JUP, KRAS, LAMP2, LMNA, LZTR1, MAP2K1,
MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYLK3, NF1, NRAS, PCCA, PCCB, PKP2,
PLN, PPCS, PPP1CB, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RYR2, SCN5A, SDHA,
SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TMEM43, TMEM70, TNNC1,
TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL

2251

心臓疾患

2262

心臓疾患

Invitae拡張型心筋症パネル
Invitae Dilated Cardiomyopathy Panel

ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ALPK3, BAG3, CPT2, CRYAB, CSRP3, DES, DMD,DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKRP, FKTN, FLNC, HCN4, JUP, LAMP2, LMNA,
MYBPC3, MYH7, MYLK3, PCCA, PCCB, PKP2, PLN, PPCS, RAF1, RBM20, RYR2, SCN5A, SDHA,
SGCD, SLC22A5, TAZ, TBX20, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1,
TTN, TTR, VCL

2261

心臓疾患

Invitae肥大型心筋症パネル
Invitae Hypertrophic Cardiomyopathy Panel

ACADVL, ACTC1, ACTN2, AGL, ALPK3, BAG3, CACNA1C, CPT2, CSRP3, DES, ELAC2, FHL1,
FLNC, GAA, GLA, LAMP2, MTO1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1,
TNNI3, TNNT2, TPM1, TTR, VCL

5201

心臓疾患

Invitae遺伝性ヘモクロマトーシスパネル
Invitae Hereditary Hemochromatosis Panel

FTH1, HAMP, HFE, HJV, SLC40A1, TFR2

2265

心臓疾患

Invitae hATTRアミロイドーシス検査
Invitae Hereditary Transthyretin-mediatedamyloidosis (hATTR amyloidosis) Test

TTR

Invitae先天性心疾患パネル
Invitae Congenital Heart Disease Panel

ACTC1, ACVR2B, ALMS1, BCOR, BRAF, CASZ1, CBL, CHD7, CRELD1, ELN, FOXH1,
GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM6A,
KMT2D, KRAS, LEFTY2, MAP2K1, MAP2K2, MED13L, MEIS2, MESP1, MYH6, NFATC1,
NKX2-5, NKX2-6, NODAL, NOTCH1, NR2F2, NRAS, NSD1, PLD1, PTPN11, RAF1, RBFOX2,
RIT1, ROBO1, SHOC2, SMAD6, SOS1, TAB2, TBX1, TBX20, TBX5, TFAP2B, ZFPM2, ZIC3

4204

心臓疾患

13

2352

Invitae遺伝性出血性毛細血管拡張症および血管奇形パネル
心臓疾患
Invitae Hereditary Hemorrhagic
Telangiectasia and Vascular Malformations
Panel

2401

心臓疾患

Invitae家族性高コレステロール血症パネル
Invitae Familial Hypercholesterolemia Panel

APOB, LDLR, LDLRAP1, PCSK9

2351

心臓疾患

Invitae肺動脈性肺高血圧症パネル
Invitae Pulmonary Arterial Hypertension
Panel

ACVRL1, AQP1, ATP13A3, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SMAD9, SOX17, TBX4

2301

心臓疾患

Invitae大動脈障害総合パネル
Invitae Aortopathy Comprehensive Panel

ACTA2, ADAMTS10, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, FOXE3,
LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3,
SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

2313

心臓疾患

Invitaeエーラス-ダンロス症候群パネル
Invitae Ehlers-Danlos Syndrome Panel

ADAMTS2, ATP7A, B3GALT6, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1,
COL5A2, CRTAP, FKBP14, FLNA, P3H1, PLOD1, SLC39A13

2311

心臓疾患

Invitaeロイス-ディーツ症候群パネル
Invitae Loeys-Dietz Syndrome Panel

FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

2312

心臓疾患

Invitaeマルファン症候群検査
Invitae Marfan Syndrome Test

FBN1

2201

心臓疾患

Invitae不整脈総合パネル
Invitae Arrhythmia Comprehensive Panel

ABCC9, ACTN2, BAG3, CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, CDH2, DES,
DSC2, DSG2, DSP, EMD, FLNC, GATA4, GATA5, GJA5, HCN4, JUP, KCNE1, KCNH2, KCNJ2,
KCNQ1, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, TMEM43,
TNNI3, TNNT2, TRDN, TRPM4, TTN

Invitae包括的な脂質血症パネル
Invitae Comprehensive Lipidemia Panel

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, CETP, CREB3L3, CYP27A1,
GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPG, LMF1, LPL, LRP6, MTTP, PCSK9, PNPLA2,
SAR1B

53698

心臓疾患

ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4

1722

皮膚疾患

Invitae基底細胞母斑症候群パネル
Invitae Basal Cell Nevus Syndrome Panel

PTCH1, SUFU

1720

皮膚疾患

Invitae BHD症候群検査
Invitae Birt-Hogg-Dubé Syndrome Test

FLCN

1702

皮膚疾患

Invitaeリンチ症候群パネル
Invitae Lynch Syndrome panel

EPCAM, MLH1, MSH2, MSH6, PMS2

1713

皮膚疾患

Invitae膵臓がん・悪性黒色腫症候群パネル
Invitae Melanoma-Pancreatic Cancer
Syndrome Panel

CDK4, CDKN2A

1561

皮膚疾患

Invitae 遺伝性皮膚がんパネル
Invitae Hereditary Skin Cancer Panel

BAP1, BLM, BRCA2, CDK4, CDKN2A, EPCAM, MBD4, MITF, MLH1, MSH2, MSH6, PMS2, POT1,
PTCH1, PTEN, RB1, SUFU, TP53, WRN

4167

皮膚疾患

Invitae神経線維腫症2型検査
Invitae Neurofibromatosis Type 2 Test

NF2

4168

皮膚疾患

Invitae多発性神経鞘腫症パネル
Invitae Schwannomatosis Panel

LZTR1, NF2, SMARCB1

1721

皮膚疾患

Invitae結節性硬化症パネル
Invitae Tuberous Sclerosis Complex Panel

TSC1, TSC2

InvitaeAdams-オリバー症候群パネル
Invitae Adams-Oliver Syndrome Panel

ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

Invitae Cardio-Facio-Cutaneous Syndrome
Panel

BRAF, KRAS, MAP2K1, MAP2K2, SHOC2, SOS1

Invitae先天性魚鱗癬パネル
Invitae Congenital Ichthyosis Panel

ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, CAST, CDSN, CERS3, CLDN1,CYP4F22, EBP, ELOVL1, ELOVL4, GJA1, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2,
KRT9, LIPN, LOR, MBTPS2, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SDR9C7, SERPINB7,SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, VPS33B, ZMPSTE24

434342 皮膚疾患

4163

皮膚疾患

434346 皮膚疾患

14

ANTXR1, APCDD1, ATP7A, AXIN2, BCS1L, BMP4, CDH3, CDSN, CLDN1, CTSC, DSG4, DSP, EDA,
歯の無歯症パネルの有無にかかわらず、 EDAR, EDARADD, EGFR, ERCC2, ERCC3, ERCC8, GJA1, GJB2, GJB6, GRHL2, GTF2E2, GTF2H5,
Invitae外胚葉異形成症
HOXC13, HR, IRF6, JUP, KANK2, KDF1, KREMEN1, KRT14, KRT16, KRT17, KRT25, KRT6A, KRT6B,
KRT6C, KRT71, KRT74, KRT83, KRT85, LIPH, LPAR6, LRP6, LSS, LTBP3, MBTPS2, MPLKIP, MSX1,
Invitae Ectodermal Dysplasia with or
NECTIN1, NECTIN4, NFKBIA, PAX9, PKP1, POC1A, PORCN, PTH1R, RIN2, RNF113A, RPL21,
without Tooth Agenesis Panel
SMOC2, SNRPE, SOX18, SPINK5, TFAP2B, TP63, TRPS1, TRPV3, TSPEAR, WNT10A, WNT10B

5021

皮膚疾患

4165

皮膚疾患

Invitaeレジウス症候群テスト
Invitae Legius Syndrome Test

SPRED1434348

皮膚疾患

Invitae眼皮膚白皮症パネル
Invitae Oculocutaneous Albinism Panel

AP3B1, AP3D1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, FRMD7, GPR143, HPS1, HPS3, HPS4,
HPS5, HPS6, LYST, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1

4735

皮膚疾患

Invitae vanderWoude症候群パネル
Invitae van der Woude Syndrome Panel

GRHL3, IRF6434351

皮膚疾患

Invitae色素性乾皮症パネル
Invitae Xeroderma Pigmentosum Panel

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

4412

内分泌学

Invitaeアンドロゲン不応症パネル
Invitae Androgen Insensitivity Panel

AR, SRD5A2

55007

内分泌学

Invitae性発達障害パネル
Invitae Disorders of Sex Development
Panel

AMH, AMHR2, ANOS1, AR, ARX, ATRX, B3GLCT, CBX2, CCNQ, CHD7, CKAP2L, CYB5A, CYP11A1,
CYP11B1, CYP17A1, CYP19A1, DHH, DMRT1, ESR2, FRAS1, FREM2, H6PD, HHAT, HOXA13,
HSD17B3, HSD3B2, KL, LHCGR, LHX3, LHX4, MAMLD1, MAP3K1, NR0B1, NR5A1, POR, PROP1,
PSMC3IP, RSPO1, SOX9, SPECC1L, SRD5A2, SRY, STAR, TNK2, TOE1, TSPYL1, TWIST2, UBR1,
WNT4, WNT9B, WT1, WWOX, ZFPM2

4413

内分泌学

女性の性的発達テストのInvitae障害
Invitae Disorders of Female Sex
Development Test

SRY

4736

内分泌学

Invitae低ゴナドトロピン性
低ゴナドトロピン症パネル
Invitae Hypogonadotropic Hypogonadism
Panel

ANOS1, AXL, CCDC141, CHD4, CHD7, CYP19A1, DHCR7, DUSP6, FEZF1, FGF17, FGF8, FGFR1,
FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IGSF10, IL17RD, KISS1, KISS1R, KLB, LEP,
LEPR, LHB, LMNA, NR0B1, NSMF, PCSK1, PLXNA1, POLR3B, PROK2, PROKR2, PROP1, RELN,
RNF216, SEMA3A, SOX10, SOX2, SPRY4, SRA1, SRY, TAC3, TACR3, WDR11

98001

内分泌学

Invitae単一遺伝性肥満パネル
Invitae Monogenic Obesity PanelADCY3, AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9,
BDNF, C8ORF37, CEP164, CEP19, CEP290, CPE, CREBBP, CUL4B, DYRK1B, EP300, FBN3, GNAS,
GPR101, IFT172, IFT27, IFT74, KDM6A, KIDINS220, KIF7, KMT2D, KSR2, LEP, LEPR, LZTFL1,MAGEL2, MC3R, MC4R, MEGF8, MKKS, MKS1, MRAP2, NLGN2, NPY, NR0B2, NTRK2, PCSK1,
PHF6, POMC, PPARG, PRMT7, RAB23, RAI1, RPS6KA3, SCLT1, SDCCAG8, SETD2, SH2B1, SIM1,
TRAPPC3, TRAPPC9, TRIM32, TTC8, UCP3, VPS13B, WDPCP

55001

内分泌学

Invitae単発性糖尿病パネル
Invitae Monogenic Diabetes Panel

ABCC8, APPL1, BLK, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A,
IER3IP1, INS, KCNJ11, KLF11, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PDX1, PPARG,
PTF1A, RFX6, SLC19A2, WFS1, ZFP57

98006

内分泌学

Invitae 低血糖パネル
Invitae Hypoglycemia Panel

AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADK, AGL,
AKT2, ALDOA, ALDOB, ALG3, ALG6, BCKDHA, BCKDHB, CA5A, CACNA1C, CACNA1D, CDKN1C,
COG7, CPT1A, CPT2, CYP7B1, DBH, DBT, DDC, DGUOK, DLD, DMXL2, DOLK, ENO3, ETFA, ETFB,ETFDH, FAH, FBP1, FLAD1, G6PC, GAA, GALE, GALK1, GALT, GBE1, GCK, GH1, GHR, GLUD1,
GPC3, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HESX1, HK1, HMGCL, HMGCS2, HNF1A,
HNF4A, HRAS, HSD3B7, INSR, KCNJ11, KDM6A, KMT2D, LAMP2, LDHA, LHX3, MLYCD, MPI,
MPV17, NADK2, NNT, NR0B1, NR3C1, NSD1, OPLAH, OTX2, OXCT1, PC, PCK1, PCK2, PCSK1,
PDX1, PFKM, PGAM2, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POMC, PROP1,
PTF1A, PYGL, PYGM, RBCK1, SERAC1, SLC16A1, SLC22A5, SLC25A20, SLC25A32, SLC2A2,
SLC37A4, SLC52A1, SLC52A2, SLC52A3, SOX2, SOX3, TAZ, TBX19, TRMT10A, UCP2

72039

内分泌学

Invitae低リン血症パネル
Invitae Hypophosphatemia Panel

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, GNAS,
OCRL, PHEX, SLC34A1, SLC34A3, VDR

72038

内分泌学

InvitaeX-Linked低リン酸血症テスト
Invitae X-Linked Hypophosphatemia Test

PHEX

5201

血液疾患

Invitae遺伝性ヘモクロマトーシスパネル
Invitae Hereditary Hemochromatosis
Panel

FTH1, HAMP, HFE, HJV, SLC40A1, TFR2

5261

血液疾患

InvitaeアンチトロンビンIII欠損症検査
Invitae Antithrombin III Deficiency TestSERPINC1

15

5251

血液疾患

Invitae遺伝性血栓性素因パネル
Invitae Hereditary Thrombophilia Panel

ADAMTS13, F2, F5, F9, FGB, FGG, MPL, PROC, PROS1, SERPINC1, THBD

5262

血液疾患

InvitaeプロテインC欠乏症検査
Invitae Protein C Deficiency Test

PROC

5263

血液疾患

InvitaeプロテインS欠乏症検査
Invitae Protein S Deficiency Test

PROS1

5301

血液疾患

Invitae骨髄不全症候群パネル
Invitae Bone Marrow Failure Syndromes
Panel

ABCB7, ACD, ADA2, AK2, ALAS2, AP3B1, BRCA2, BRIP1, CD40, CD40LG, CEBPE, CLPB, CSF3R,
CTC1, CXCR4, DDX41, DKC1, DNAJC21, EFL1, ELANE, ERCC4, ERCC6L2, FANCA, FANCB,FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, G6PC, G6PC3, GATA1, GATA2, GFI1,
HAX1, HTRA2, JAGN1, LYST, MECOM, MPL, MYSM1, NHP2, NOP10, PALB2, PARN, POT1,
RAB27A, RBM8A, RECQL4, RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24,
RPS26, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SLC37A4, SLX4, SMARCD2, SRP54,
SRP72, STK4, STN1, TAZ, TCN2, TERC, TERT, TIMM50, TINF2, TP53, UBE2T, USB1, VPS13B,
VPS45, WAS, WRAP53

5313

血液疾患

Invitaeダイアモンド・ブラックファン貧血
パネル
Invitae Diamond-Blackfan Anemia Panel

GATA1, MYSM1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29,
RPS7

5314

血液疾患

Invitae先天性角化異常症パネル
Invitae Dyskeratosis Congenita Panel

ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RTEL1, STN1, TERC, TERT, TINF2, WRAP53

5311

血液疾患

Invitaeファンコニ貧血パネル
Invitae Fanconi Anemia Panel

BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI,FANCL, PALB2, SLX4, UBE2T

5314

免疫疾患

Invitae先天性角化異常症パネル
Invitae Telomere Biology Disorders Panel

ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RTEL1, STN1, TERC, TERT, TINF2, WRAP53

8111

免疫疾患

Invitae無ガンマグロブリン血症パネル
Invitae Agammaglobulinemia Panel

BLM, BLNK, BTK, CCBE1, CD19, CD27, CD79A, CD79B, CD81, CDC42, CDCA7, DNMT3B, FAT4,
FNIP1, GATA2, HELLS, ICOSLG, IGLL1, IL2RB, IRF2BP2, IRF4, KMT2A, LIG1, LRRC8A, MOGS,MYSM1, OAS1, PIK3R1, SEC61A1, SH2D1A, SLC39A7, TCF3, TOP2B, TRNT1, XIAP, ZBTB24

8112

免疫疾患

Invitae分類不能型免疫不全症パネル
Invitae Common Variable
Immunodeficiency Panel

ARHGEF1, ATP6AP1, CD19, CD27, CD81, CR2, CTLA4, CXCR4, DCLRE1C, ICOS, IKZF1, IL21,
IL21R, IRF2BP2, JAK3, KDM6A, KMT2D, LRBA, MS4A1, NFKB1, NFKB2, NSMCE3, PIK3CD, PIK3R1,
PLCG2, PRKCD, RAC2, RAG1, RAG2, SH3KBP1, STAT3, STXBP2, TNFRSF13B, TNFRSF13C,
TNFSF12, VAV1

8113

免疫疾患

Invitae高IgE症候群パネル
Invitae Hyper IgE Syndrome PanelCARD11, DOCK8, DSG1, ERBIN, IL6R, IL6ST, PGM3, SPINK5, STAT3, TYK2, ZNF341

8114

免疫疾患

Invitae高IgM症候群パネル
Invitae Hyper IgM Syndrome PanelAICDA, CD40, CD40LG, PIK3CD, PIK3R1, UNG

8120

ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, ANKZF1, AP3B1, ARPC1B, ASAH1, BACH2,
BLOC1S6, BTK, C17ORF62, CARD14, CARD8, CASP10, CASP8, CCBE1, CD27, CD3G, CD40,
CD40LG, COPA, CR2, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DEF6, DKC1, DNASE1L3, DNASE2,
DOCK8, DSG1, DUOX2, ELANE, FADD, FAS, FASLG, FCHO1, FOXP3, G6PC3, ICOS, IFIH1, IL10,
IL10RA, IL10RB, IL1RN, IL21, IL21R, IL2RA, IL2RB, IL2RG, IL36RN, IRF2BP2, ITCH, ITGAM, ITGB2,
ITK, JAK1, LIG4, LPIN2, LRBA, LYN, LYST, MAGT1, MEFV, MVK, NCF2, NCF4, NFAT5, NFKB1,
Invitae自己炎症および自己免疫症候群パネ
NFKB2, NFKBIA, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, ORAI1, OTULIN, PEPD, PIK3CD,
ル Invitae Autoinflammatory and
免疫疾患
PIK3R1, PLCG2, PNP, POLA1, POMP, PRF1, PRKCD, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1,
Autoimmunity Syndromes Panel
RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RFX5, RFXANK, RFXAP, RIPK1, RMRP,RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RTEL1, SAMHD1, SCO2, SH2D1A, SH3BP2, SI,
SIAE, SKIV2L, SLC29A3, SLC37A4, SLC7A7, STAT1, STAT3, STAT4, STAT5B, STIM1, STX11,
STXBP2, TBX1, TGFB1, TGFBR1, TGFBR2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B,
TNFRSF13C, TNFRSF1A, TNFRSF6B, TNFSF12, TOP2B, TPP2, TREX1, TRNT1, TTC37, TTC7A,
UNC13D, UNG, WAS, XIAP, ZAP70, ZNF341

4313

免疫疾患

Invitae家族性地中海熱検査
Invitae Familial Mediterranean Fever Test

MEFV

免疫疾患

Invitae単一遺伝性炎症性腸疾患パネル
Invitae Monogenic Inflammatory Bowel
Disease Panel

ADA, ADAM17, AICDA, ANKZF1, ARPC1B, BACH2, BTK, C17ORF62, CARD8, CARMIL2, CD3G,
CD40, CD40LG, CD55, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, DUOX2, FCHO1, FOXP3,
G6PC3, ICOS, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RB, IL2RG, ITGB2, JAK1, LIG4, LRBA, MEFV,MVK, NCF2, NCF4, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, POLA1, RAG1, RAG2, RIPK1,
RTEL1, SH2D1A, SI, SKIV2L, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TGFB1, TGFBR1,TGFBR2, TTC37, TTC7A, WAS, XIAP, ZAP70, ZNF341

8122

16

免疫疾患

Invitae自己炎症症候群パネル
Invitae Periodic Fever Syndromes Panel

8130

免疫疾患

ACD, ADA, AK2, ARPC1B, ATM, B2M, BCL10, BCL11B, BLM, CARD11, CARMIL2, CCBE1, CD247,
CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CHD7, CIITA, CORO1A, CTC1, CTPS1,CXCR4, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, EPG5, ERBIN, ERCC6L2, EXTL3, FAT4,
FCHO1, FNIP1, FOXI3, FOXN1, HELLS, ICOS, ICOSLG, IKBKB, IKZF1, IL21, IL21R, IL2RG, IL6R,
Invitae包括的なSCIDおよびCIDパネル
IL6ST, IL7R, ITK, JAK3, KDM6A, KMT2D, LAT, LCK, LIG1, LIG4, LRBA, MAGT1, MALT1, MAP3K14,
Invitae Comprehensive Severe Combined
MCM4, MSN, MTHFD1, MYSM1, NBN, NFE2L2, NFKBIA, NHEJ1, NHP2, NOP10, NSMCE3, ORAI1,
Immunodeficiency (SCID) and Combined
PARN, PAX1, PGM3, PNP, POLD1, POLE, POLE2, PRKDC, PTPRC, RAC2, RAG1, RAG2, RELA,
Immunodeficiency (CID) Panel
RELB, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNF168, RNF31, RNU4ATAC, RTEL1, SEMA3E,
SGPL1, SH2D1A, SKIV2L, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4,
STN1, TAP1, TAP2, TAPBP, TBX1, TCN2, TERC, TERT, TFRC, TINF2, TNFRSF4, TP63, TTC37,
TTC7A, WAS, WIPF1, ZAP70, ZBTB24, ZNF341

8151

免疫疾患

Invitae自己免疫性リンパ増殖性疾患（
ALPS）パネル
Invitae Autoimmune Lymphoproliferative
Disorders (ALPS) Panel

CASP10, CASP8, CTLA4, FADD, FAS, FASLG, ITK, MAGT1, PIK3CD, PIK3R1, PRKCD, RELA,
STAT3

8152

免疫疾患

Invitae遺伝性血球貪食性リンパ組織球症（HLH）障害パネル
Invitae Hereditary Hemophagocytic
Lymphohistiocytosis (HLH) Disorders Panel

ADA, AP3B1, AP3D1, BLOC1S6, BTK, CD27, GATA2, IL2RA, IL2RG, ITK, LYST, MAGT1, MVK,NLRC4, PNP, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, WAS, XIAP

8160

免疫疾患

Invitae好中球減少症を伴う食作用障害
パネル
Invitae Phagocytic Disorders Including
Neutropenia Panel

ACTB, AK2, AP3B1, AP3D1, BTK, C17ORF62, CD40, CD40LG, CDC42, CEBPE, CLPB, CSF2RA,
CSF2RB, CSF3R, CTSC, CXCR2, CXCR4, CYBA, CYBB, DKC1, DNAJC21, EFL1, EIF2AK3, ELANE,FERMT3, FPR1, G6PC, G6PC3, G6PD, GATA2, GFI1, GINS1, HAX1, HTRA2, HYOU1, ITGB2,
JAGN1, KAT6A, LAMTOR2, LPIN2, LYST, MKL1, MSN, MTHFD1, NCF2, NCF4, PGM3, PMM2,
RAB27A, RAC2, RMRP, SLC35C1, SLC37A4, SMARCD2, SPINK5, SRP54, SRP72, STAT3, STK4,
TAZ, TCN2, TERT, TFRC, TIMM50, TNFSF12, USB1, VPS13B, VPS45, WAS, WDR1, WIPF1

55680

免疫疾患

Invitae遺伝性血管浮腫パネル
Invitae Hereditary Angioedema Panel

ANGPT1, F12, PLG, SERPING1

Invitae先天性下痢症パネル
Invitae Congenital Diarrhea Panel

ADA, ADAM17, AICDA, ALG6, ANKZF1, ARPC1B, BACH2, BTK, C17ORF62, CARD8, CARMIL2,
CD3G, CD40, CD40LG, CD55, CTLA4, CYBA, CYBB, CYP27A1, DCLRE1C, DEF6, DGAT1, DKC1,
DOCK8, DUOX2, FCHO1, FOXP3, G6PC3, GUCY2C, ICOS, IL10, IL10RA, IL10RB, IL21, IL2RA,
IL2RB, IL2RG, ITGB2, JAK1, LCT, LIG4, LIPA, LRBA, MEFV, MVK, MYO5B, NCF2, NCF4, NEUROG3,
NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, POLA1, RAG1, RAG2, RIPK1, RTEL1, SAR1B,
SH2D1A, SI, SKIV2L, SLC26A3, SLC37A4, SLC5A1, SLC9A3, SPINT2, STAT1, STAT3, STIM1, STX3,
STXBP2, TGFB1, TGFBR1, TGFBR2, TTC37, TTC7A, UNC45A, WAS, XIAP, ZAP70, ZNF341

4312

55681

8100

免疫疾患

免疫疾患

ADA2, ASAH1, ELANE, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, POMP, PSMA3, PSMB4,
PSMB8, PSMG2, PSTPIP1, SCO2, TNFRSF1A, TRNT1

ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, ADGRE2, AICDA, AIRE, AK2, ALG6, ALPK1,ANGPT1, ANKZF1, AP3B1, AP3D1, ARHGEF1, ARPC1B, ASAH1, ATM, ATP6AP1, B2M, BACH2,
BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, C17ORF62, C1QA, C1QB, C1QC, C1S, C2,
C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8,
CBL, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59,
CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CHD7, CIB1,
CIITA, CLCN7, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4,
CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYP27A1, DBR1, DCLRE1C, DDX58, DEF6, DGAT1,
DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DSG1, DTNBP1,DUOX2, EFL1, EIF2AK3, ELANE, EPG5, ERBIN, ERCC2, ERCC3, ERCC6L2, EXTL3, FADD, FANCA,FANCB, FANCE, FANCF, FANCI, FANCL, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FNIP1,
FOXI3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, GTF2E2,
GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYOU1,
ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA,
IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R,
IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF4, IRF7, IRF8, IRF9, ISG15,
ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, KAT6A, KDM6A, KMT2A, KMT2D, LAMTOR2, LAT,
LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1,
Invitae原発性免疫不全パネル
MAP3K14, MCM4, MEFV, MKL1, MOGS, MPLKIP, MS4A1, MSN, MTHFD1, MVK, MYD88, MYO5B,
Invitae Primary Immunodeficiency Panel
MYSM1, NBAS, NBN, NCF2, NCF4, NCKAP1L, NCSTN, NEUROG3, NFAT5, NFE2L2, NFKB1,
NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NSMCE3, OAS1,
ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PLVAP, PMM2,PNLIP, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3F, POMP, PRF1, PRKCD,PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1,
RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH,
RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC,
RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SAR1B, SCO2, SEC61A1, SEMA3E, SERPING1,
SGPL1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIV2L, SLC10A2, SLC26A3, SLC29A3, SLC35C1,
SLC37A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2,
SNX10, SP110, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B,
STIM1, STK4, STN1, STX11, STX3, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCF3,
TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TIMM50, TINF2,
TLR3, TLR7, TMC6, TMC8, TMEM173, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B,
TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B,
TP63, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC45A,
UNC93B1, UNG, USB1, VAV1, VPS13B, VPS45, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP,
ZAP70, ZBTB24, ZCCHC8, ZNF341

17

代謝/
新生児

Invitaeリソソーム蓄積症新生児スクリーニ
ングパネル
Invitae Lysosomal Storage Disorders
Newborn Screening Panel

代謝/
新生児

AAAS, ABCD1, ABCD3, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5,
ACOX1, ACOX2, ACSF3, ADAR, ADK, AHCY, ALDH4A1, ALDH6A1, ALDH7A1, AMACR, AMT, ARG1,
ARSA, ASL, ASPA, ASS1, AUH, BCAP31, BCAT2, BCKDHA, BCKDHB, BTD, CBS, CD320, CFTR,
CLPB, CPS1, CPT1A, CPT2, DBT, DLD, DNAJC12, DNAJC19, DNM1L, ECHS1, ETFA, ETFB, ETFDH,
ETHE1, FAH, FLAD1, FTCD, G6PD, GAA, GALC, GALE, GALK1, GALM, GALT, GAMT, GATM,
Invitae 代謝新生児スクリーニング確認パネ GCDH, GCGR, GCH1, GLA, GLDC, GNMT, GSS, HADH, HADHA, HADHB, HCFC1, HIBCH, HLCS,ルHMGCL, HPD, HSD17B10, HSD17B4, HTRA2, IDS, IDUA, IFIH1, IVD, LMBRD1, MAT1A, MCCC1,
Invitae Metabolic Newborn Screening
MCCC2, MCEE, MFF, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT,
Confirmation Panel
NADK2, NAGS, NR0B1, OAT, OPA3, OTC, PAH, PC, PCBD1, PCCA, PCCB, PEX1, PEX10, PEX11B,
PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PNPO,
PPM1K, PRDX1, PRODH, PROSC, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1,
SCP2, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC2A1, SLC52A1,
SLC52A2, SLC52A3, SLC6A8, SMPD1, SPR, SUCLA2, SUCLG1, TAT, TAZ, TCN2, THAP11, TIMM50,
TMEM70, TREX1, ZNF143

98003

代謝/
新生児

A4GALT, ACAD9, ALDH18A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8,
ALG9, ARCN1, ATP13A2, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2,B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BOLA3, C1GALT1C1,
CA5A, CAD, CANT1, CCDC115, CHST14, CHST3, CHST6, CHSY1, CLN2 (TPP1), CLN3, CLN5,
CLN6, CLN8, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA, COPB2, CSGALNACT1,
CTSD, CYP27A1, D2HGDH, DDOST, DHCR7, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE,
EOGT, EXT1, EXT2, EXTL3, FKRP, FKTN, FUK, FUT8, G6PC3, GALNT3, GANAB, GFPT1, GLRX5,
Invitae 補足代謝新生児スクリーニングパネ GLUL, GM2A, GMPPA, GMPPB, GNE, GNPTAB, GNS, GORAB, GOSR2, GPAA1, HEXA, HEXB,ル
HGSNAT, HMGCS2, IBA57, ISCA2, ISPD, JAGN1, KCTD7, LARGE1, LFNG, LIAS, LIPT1, LIPT2,
MAGT1, MAN1B1, MFSD8, MGAT2, MOGS, MPDU1, MPI, NAGLU, NANS, NFU1, NGLY1, NPC1,
Invitae Supplemental Metabolic Newborn
Screening Panel
NPC2, NUS1, OGT, OXCT1, PAPSS2, PGAP1, PGAP2, PGAP3, PGM3, PIGA, PIGB, PIGC, PIGG,
PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, POFUT1,
POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRKCSH, RFT1, RPN2, RXYLT1,SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SGSH, SLC10A7, SLC16A1, SLC26A2, SLC35A1,
SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC6A9, SLC7A7, SLC9A7, SRD5A3,
SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TGDS, TMEM165, TMEM199, TRAK1,
TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B,
XYLT1, XYLT2

6210

代謝/
新生児

Invitae 超長鎖脂肪酸増加因子（X連鎖性副AAAS, ABCD1, ABCD3, ACBD5, ACOX1, ACOX2, ADAR, AMACR, ARSA, BCAP31, CLN2
腎白質ジストロフィー・ペルオキシダーゼ (TPP1), CLN3, DNM1L, GALC, HSD17B4, IFIH1, MFF, NR0B1, PEX1, PEX10, PEX11B, PEX12,
病含む）検査パネル
PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PPT1,
Invitae Elevated Very Long Chain Fatty
RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, TREX1Acids Panel (including X-ALD)

6117

代謝/
新生児

6118

代謝/
新生児

6104

代謝/
新生児

Invitae カルニチン回路異常症（C0/C16+C18増加因子）検査パネル
Invitae Elevated C0/(C16+C18) Test

CPT1A

6105

代謝/
新生児

Invitae プロピオニルカルニチン（C3）増加因子検査パネル
Invitae Elevated C3 Panel

ABCD4, ACSF3, ALDH6A1, BTD, CD320, HCFC1, HLCS, LMBRD1, MCEE, MMAA, MMAB,
MMACHC, MMADHC, MUT, PCCA, PCCB, PRDX1, TCN2, THAP11, ZNF143

6106

代謝/
新生児

Invitae マロニルカルチニン（C3-DC）増加
因子検査パネル
Invitae Elevated C3-DC PanelACSF3, MLYCD

6107

代謝/
新生児

Invitae ブチリルカルチニン（C4）増加因
子検査パネルInvitae Elevated C4 Panel

ACAD8, ACADS, ETHE1, FTCD

6108

代謝/
新生児

Invitae 3-ヒドロキシブチリルカルニチン（C4-OHカルニチン）増加因子検査パネル
Invitae Elevated C4-OH Test

HADH, HIBCH

6171

6102

Invitaeアルギナーゼ欠損症パネル
Invitae Elevated Arginine (Arginase
deficiency) Panel
Invitaeシトルリン血症パネル
Invitae Elevated Citrulline (Citrullinemia)
Panel

CHIT1, GAA, GALC, GBA, GLA, IDS, IDUA, NPC1, NPC2, SMPD1

ARG1, GCGR

ASL, ASS1, DLD, PC, SLC25A13

18

6110

代謝/
新生児

Invitae イソバレリルカルニチン（C5）増加因子検査パネル
Invitae Elevated C5 Panel

6112

代謝/
新生児

Invitae 3-ヒドロキシイソバレリルカルニチ
ACAT1, AUH, BTD, CLPB, DNAJC19, HLCS, HMGCL, HSD17B10, HTRA2, MCCC1, MCCC2,ン（C5-OH）増加因子検査パネル
OPA3, SERAC1, TAZ, TIMM50, TMEM70
Invitae Elevated C5-OH Panel

6114

代謝/
新生児

Invitae VLCAD欠損症検査
Invitae Elevated C14 and C14:1 (VLCAD
deficiency) Test

ACADVL

6115

代謝/
新生児

Invitae 三頭酵素欠損症（C16-OH,C16:1OH, C18-OH, C18:1-OH増加因子）検査パ
ネル
Invitae Elevated C16-OH, C16:1-OH, C18OH & C18:1-OH Panel

HADHA, HADHB

6116

代謝/
新生児

Invitae カルニチン回路異常症（C16, C16:1,
C18, C18:1増加）検査パネル
Invitae Elevated C16, C16:1, C18, & C18:1
Panel

CPT2, SLC25A20

6124

代謝/
新生児

Invitae グリシン増加因子（グリシン脳症含む）検査パネル
Invitae Elevated Glycine Panel(including Glycine Encephalopathy)

AMT, BOLA3, GLDC, GLRX5, IBA57, ISCA2, LIAS, LIPT1, LIPT2, NFU1, PNPO, SLC6A9

6119

代謝/
新生児

Invitae メープルシロップ尿症（ロイシン増加）検査パネル
Invitae Elevated Leucine（MSUD）パネル

BCAT2, BCKDHA, BCKDHB, DBT, DLD, PPM1K

6125

代謝/
新生児

Invitae メチオニン増加因子検査パネル
Invitae Elevated Methionine Panel

ADK, AHCY, CBS, FAH, GNMT, MAT1A, SLC25A13

6145

代謝/
新生児

Invitae 高フェニルアラニン血症検査パネル
Invitae Elevated Phenylalanine(Hyperphenylalaninemia) Panel

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SLC25A13, SPR

6146

代謝/
新生児

Invitae 高プロリン血症検査パネル
Invitae Elevated Proline (Hyperprolinemia)
Panel

ALDH4A1, PRODH

6126

代謝/
新生児

Invitae チロシン血症検査パネル
Invitae Elevated Tyrosine（Tyrosinemia）
Panel

FAH, HPD, TAT

6165

代謝/
新生児

Invitae脂肪酸酸化欠乏パネル
Invitae Fatty Acid Oxidation Defects Panel

ACAD9, ACADM, ACADS, ACADSB, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, FLAD1, HADH,
HADHA, HADHB, HMGCL, HMGCS2, MLYCD, NADK2, SLC22A5, SLC25A20, SLC25A32, SLC52A1,
SLC52A2, SLC52A3, TANGO2

6202

代謝/
新生児

Invitae銅代謝障害パネル
Invitae Copper Metabolism Disorders Panel

AP1S1, ATP6AP1, ATP6AP2, ATP7A, ATP7B, CCDC115, CP, PGM1, SLC33A1, TMEM199

6123

代謝/
新生児

Invitae低シトルリンパネル
Invitae Low Citrulline Panel

ALDH18A1, CPS1, NAGS, OTC

6127

代謝/
新生児

Invitae メチルマロニルカルチニン（C4DC）増加因子検査パネル
Invitae Elevated C4-DC Panel

SUCLA2, SUCLG1ACADSB, IVD

19

6103

代謝/
新生児

Invitae低C0検査
Invitae Low C0 Test

SLC22A5

6140

代謝/
新生児

Invitaeアルカプトン尿症検査
Invitae Alkaptonuria Test

HGD

6142

代謝/
新生児

Invitaeシスチン尿症パネル
Invitae Cystinuria Panel

PREPL, SLC3A1, SLC7A9

6141

代謝/
新生児

Invitaeメチルマロン酸血症
およびホモシスチン尿症パネル
Invitae Methylmalonic Acidemia andHomocystinuria Panel

ABCD4, ACSF3, ADK, AHCY, ALDH6A1, AMN, CBS, CD320, CUBN, GIF, GNMT, HCFC1,LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFD1, MTHFR, MTR,
MTRR, MUT, PRDX1, SUCLA2, SUCLG1, TCN1, TCN2, THAP11, ZNF143

6156

代謝/
新生児

Invitae包括的な糖原病パネル
Invitae Comprehensive Glycogen Storage
Disease Panel

AGL, ALDOA, ENO3, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, LPIN1,
PCK1, PCK2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, POLG, PYGL,
PYGM, RBCK1, SLC2A2, SLC37A4

6152

代謝/
新生児

Invitaeガラクトース血症パネル
Invitae Galactosemia Panel

GALE, GALK1, GALM, GALT, PGM1, SLC25A13, SLC2A2

6153

代謝/
新生児

Invitae グルコース-6-リン酸脱水素酵素（G6PD）欠損症検査
Invitae Glucose-6-Phosphate
Dehydrogenase (G6PD) Deficiency Test

G6PD

6159

代謝/
新生児

Invitae 遺伝性フルクトース不耐性試験検査
Invitae Hereditary Fructose Intolerance Test

ALDOB

6160

代謝/
新生児

Invitae まれな炭水化物障害パネル
Invitae Rare Carbohydrate Disorders Panel

FBP1, SLC5A1

6155

代謝/
新生児

A4GALT, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ARCN1,
ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3,B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CAD, CANT1, CCDC115,
CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA,
COPB2, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT,
EXT1, EXT2, EXTL3, FKRP, FKTN, FUK, FUT8, G6PC3, GALNT3, GANAB, GFPT1, GMPPA,
Invitae 先天性グリコシル化異常症パネル GMPPB, GNE, GNPTAB, GORAB, GOSR2, GPAA1, ISPD, JAGN1, LARGE1, LFNG, MAGT1,
Invitae Congenital Disorders of
MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, NGLY1, NUS1, OGT, PAPSS2, PGAP1,
Glycosylation PanelPGAP2, PGAP3, PGM1, PGM3, PIGA, PIGB, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP,PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2,
POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B,
SEC24D, SEC63, SLC10A7, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1,
SLC37A4, SLC39A8, SLC9A7, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B,
TGDS, TMEM165, TMEM199, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B,
TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2

6169

代謝/
新生児

Invitaeケトン症パネル
Invitae Ketolysis Disorders Panel

ACAT1, OXCT1, SLC16A1

6166

代謝/
新生児

Invitae MCAD欠損症検査
Invitae Elevated C6, C8 and C10(MCAD deficiency) Test

ACADM

6197

代謝/
新生児

Invitae イソブチリル・イソバレリルカルニ
チン（C4･C5）増加因子（アシルCoA脱水
素酵素欠損症）検査パネル
Invitae Elevated C4 and C5 (Multiple AcylCoA Dehydrogenase deficiency) Panel

ETFA, ETFB, ETFDH, ETHE1, FLAD1, SLC25A32, SLC52A1, SLC52A2, SLC52A3

3406

代謝/
新生児

脳内鉄沈着を伴う神経変性パネル
Invitae Neurodegeneration with Brain Iron
Accumulation Panel

AP4M1, ATP13A2, C19ORF12, COASY, CP, CRAT, DCAF17, FA2H, FTL, FUCA1, GJA1,GTPBP2, KIF1A, PANK2, PLA2G6, REPS1, SCP2, SLC25A42, SQSTM1, WDR45
20

AGA, ARSA, ARSB, ASAH1, ASPA, ATP13A2, CHIT1, CLCN7, CLN2 (TPP1), CLN3, CLN5, CLN6,
CLN8, CTNS, CTSA, CTSD, CTSK, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE,
Invitae包括的なリソソーム蓄積症パネル
Invitae Comprehensive Lysosomal Storage GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA,
LYST, MAN2B1, MANBA, MCOLN1, MFSD8, MMP14, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1,
Disorders Panel
PSAP, SCARB2, SGSH, SLC17A5, SMPD1, SUMF1, VPS33A

6170

代謝/
新生児

6172

代謝/
新生児

Invitaeシスチノーシス検査
Invitae Cystinosis Test

CTNS

6179

代謝/
新生児

InvitaeFarber脂肪性肉芽腫症検査
Invitae Farber Lipogranulomatosis Test

ASAH1

2266

代謝/
新生児

Invitaeファブリー病検査
Invitae Fabry Disease Test

GLA

6180

代謝/
新生児

InvitaeGM2ガングリオシドーシスパネル
Invitae GM2 Gangliosidosis Panel

GM2A, HEXA, HEXB

6173

代謝/
新生児

Invitaeクラッベ病検査
Invitae Krabbe Disease Test

GALC

6181

代謝/
新生児

Invitaeラシソゾーム酸性リパーゼ欠損症
検査
Invitae Lysosomal Acid Lipase Deficiency
Test

LIPA

6174

代謝/
新生児

Invitae異染性白質ジストロフィーパネル
Invitae Metachromatic Leukodystrophy
Panel

ARSA, PSAP, SUMF1

6185

代謝/
新生児

Invitae ムコ多糖症Plus検査パネル（ムコ多糖症、ムコリピドーシス、オリゴ AGA, ARSB, CTSA, CTSK, FUCA1, GALNS, GLB1, GNE, GNPTAB, GNPTG, GNS, GUSB, HGSNAT,HYAL1, IDS, IDUA, MAN2B1, MANBA, MBTPS1, MCOLN1, NAGA, NAGLU, NEU1, SGSH, SLC17A5,糖症）
Invitae Mucopolysaccharidoses Plus
SUMF1, VPS33A(MPS+) Panel

3405

代謝/
新生児

Invitae神経セロイドリポフスチン症パネル
Invitae Neuronal Ceroid Lipofuscinoses
Panel

ATP13A2, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CTSD, KCTD7, MFSD8, PPT1

6190

代謝/
新生児

Invitaeニーマンピック病タイプA型
およびB型検査
Invitae Niemann-Pick Disease Types A andB Panel

SMPD1

6176

代謝/
新生児

Invitaeニーマンピック病C型パネル
Invitae Niemann-Pick Disease Type C Panel

NPC1, NPC2

6177

代謝/
新生児

Invitaeポンペ病検査
Invitae Pompe Disease Test

GAA

6178

代謝/
新生児

Invitaeサンドホフ病検査
Invitae Sandhoff Disease Test

HEXB

4719

代謝/
新生児

Invitaeテイ・サックス病検査
Invitae Tay-Sachs Disease Test

HEXA

6183

代謝/
新生児

Invitaeウィルソン病検査
Invitae Wilson Disease Test

ATP7B
21

6192

代謝/
新生児

Invitae3-メチルクロトニルCoAカルボキシ
ラーゼパネルInvitae 3-Methylcrotonyl CoA Carboxylase
Panel

MCCC1, MCCC2

6194

代謝/
新生児

Invitaeビオチニダーゼ欠損症検査
Invitae Biotinidase Deficiency Test

BTD

6195

代謝/
新生児

Invitaeグルタル酸尿症I型検査
Invitae Elevated C5-DC (Glutaric Aciduria
Type I) Test

GCDH

6191

代謝/
新生児

Invitae有機酸血症パネル
Invitae Organic Acidemias Panel

ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ADK, AGK, AHCY, ALDH6A1, AMN, ASPA, ATP5D, AUH,
BCKDHA, BCKDHB, BOLA3, BTD, C19ORF70, CBS, CD320, CLPB, CPS1, CUBN, D2HGDH, DBT,DHTKD1, DLD, DNAJC19, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FLAD1, FTCD, GCDH,
GIF, GLRX5, GLYCTK, GNMT, GSS, HCFC1, HIBCH, HLCS, HMGCL, HSD17B10, HTRA2, IBA57,
IDH2, ISCA2, IVD, L2HGDH, LIAS, LIPT1, LIPT2, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE,MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NFU1, OGDH, OPA3,
OPLAH, OXCT1, PCCA, PCCB, PCK1, POLG, PPM1K, PRDX1, SERAC1, SLC13A3, SLC13A5,
SLC25A1, SLC25A19, SLC25A32, SLC52A1, SLC52A2, SLC52A3, SUCLA2, SUCLG1, SUGCT, TAZ,
TCN1, TCN2, THAP11, TIMM50, TMEM70, ZNF143

6199

代謝/
新生児

Invitaeプロピオン酸血症パネル
Invitae Propionic Acidemia Panel

PCCA, PCCB

6225

代謝/
新生児

Invitaeオルニチントランスカルバミラーゼ（OTC）欠損症検査
Invitae Ornithine Transcarbamylase (OTC)
Deficiency Test

OTC

6212

代謝/
新生児

Invitae尿素サイクル異常症パネル
Invitae Urea Cycle Disorders Panel

ALDH18A1, ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC25A13, SLC25A15

6162

代謝/
新生児

Invitae脳クレアチン欠乏パネル
Invitae Cerebral Creatine Deficiency Panel

GAMT, GATM, SLC6A8

6161

代謝/
新生児

Invitae脳腱黄色腫症検査
Invitae Cerebrotendinous Xanthomatosis
Test

CYP27A1

6204

代謝/
新生児

Invitae驚愕病パネル
Invitae Hereditary Hyperekplexia Panel

ARHGEF9, ASNS, ATAD1, CLPB, CTNNB1, GLRA1, GLRB, GPHN, RPS6KA3, SCN8A, SLC6A5,SLC6A9, TRAK1

6203

代謝/
新生児

Invitae神経伝達物質障害パネル
Invitae Neurotransmitter Disorders Panel

ABAT, ALDH5A1, ALDH7A1, AMT, ARHGEF9, ASNS, ATAD1, DBH, DDC, DHFR, DNAJC12,GABBR2, GABRA1, GABRA2, GABRB1, GABRB3, GABRG2, GAD1, GCH1, GLDC, GLRA1, GLRB,
GOT2, GPHN, GRIN2B, GRIN2D, MAOA, PCBD1, PHGDH, PNPO, PROSC, PSAT1, PSPH, PTS,
QDPR, SLC18A2, SLC1A2, SLC1A4, SLC25A22, SLC6A1, SLC6A3, SLC6A5, SLC6A9, SPR, TH

6222

代謝/
新生児

ABCD1, ABCD4, ACAT1, AGA, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, AMN, AMT,
APTX, ARG1, ARHGEF9, ARSA, ASAH1, ASL, ASNS, ASPA, ASS1, ATAD1, ATP7A, ATP7B, AUH,
BCKDHA, BCKDHB, BSCL2, BSND, BTD, CA5A, CAD, CASR, CBS, CD320, CLCNKB, CLDN16,
CLDN19, CLN2 (TPP1), CLN3, CLN5, CLN6, CNNM2, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B,
COQ9, CP, CPOX, CPS1, CUBN, CYP27A1, DBT, DDC, DHCR7, DHFR, DLAT, DLD, DNAJC12, EGF,
ETFA, ETFB, ETFDH, ETHE1, FAM111A, FOLR1, FXYD2, GALC, GAMT, GATM, GCDH, GCH1,
GCLC, GIF, GLA, GLB1, GLDC, GLRA1, GLRB, GLUD1, GNS, GOT2, GPHN, GSS, GUSB, HCFC1,
Invitae治療可能な神経代謝異常パネル
HEXA, HEXB, HGSNAT, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HSD17B10, IDS, IDUA, IVD,
Invitae Treatable Neurometabolic Disorders
KCNA1, KCNJ10, LIPA, LMBRD1, MAN2B1, MCCC1, MCCC2, MCEE, MFSD8, MLYCD, MMAA,
MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MSMO1, MTHFR, MTR, MTRR, MUT, NAGLU,
Panel
NAGS, NPC1, NPC2, NT5C3A, OAT, OTC, OXCT1, PAH, PANK2, PCBD1, PCCA, PCCB, PDHA1,
PDHB, PDHX, PDP1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2,
PEX26, PEX3, PEX5, PEX6, PGM3, PHGDH, PHYH, PNPO, PPM1K, PRDX1, PROSC, PRPS1,
PSAT1, PSPH, PTS, QDPR, RAPSN, SCN4A, SGSH, SLC12A1, SLC12A3, SLC13A5, SLC18A2,
SLC19A1, SLC19A2, SLC19A3, SLC1A3, SLC25A13, SLC25A15, SLC25A19, SLC2A1, SLC30A10,
SLC39A14, SLC39A8, SLC46A1, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SPR, TAT, TCN1, TCN2, TH,
TPK1, TRPM6, TTPA

6207

代謝/
新生児

Invitae成人レフサム病パネル
Invitae Adult Refsum Disease Panel

PEX7, PHYH

22

6211

代謝/
新生児

Invitaeツェルウェガー症候群パネル
Invitae Zellweger Spectrum Disorder Panel

ACBD5, ACOX1, AMACR, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16,
PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7

6213

代謝/
新生児

Invitaeプリン代謝異常パネル
Invitae Purine Metabolism Disorders Panel

ADA, ADSL, AMPD1, APRT, ATIC, DGUOK, GPHN, HPRT1, IMPDH1, MOCOS, MOCS1, MOCS2,
MOCS3, PNP, PRPS1, SUOX, UMOD, XDH

98004

代謝/
新生児

Invitaeピルビン酸代謝および関連障害パネ
BOLA3, DLAT, DLD, ECHS1, FBXL4, FDX2, GLRX5, GOT2, HIBCH, IBA57, ISCA1, ISCA2, ISCU,ル
LIAS, LIPT1, LIPT2, LONP1, LYRM4, MPC1, NFS1, NFU1, NUBPL, PC, PCK1, PDHA1, PDHB, PDHX,
Invitae Pyruvate Metabolism and Related
PDK3, PDP1, SLC19A2, SLC19A3, SLC25A1, SLC25A19, SUCLA2, SUCLG1, SUCLG2, TAZ, TPK1
Disorders Panel

55000

代謝/
新生児

Invitae α1－アンチトリプシン欠乏症検査
Invitae Alpha-1 Antitrypsin Deficiency TestSERPINA1

6226

代謝/
新生児

Invitae急性肝性ポルフィリン症パネル
Invitae Acute Hepatic Porphyrias Panel

ALAD, CPOX, HMBS, PPOX

Invitae高アンモニア血症パネル
Invitae Hyperammonemia Panel

ABCD4, ACADM, ACADVL, ALDH18A1, AMT, ARG1, ASL, ASS1, ATP5A1, ATP5D, ATP5E, ATPAF2,
BCKDHA, BCKDHB, BTD, CA5A, CPS1, CPT1A, CPT2, CYC1, DBT, DLAT, DLD, ETFA, ETFB,ETFDH, FBXL4, GLDC, GLUD1, GLUL, HADHA, HADHB, HCFC1, HLCS, HMGCL, IVD, LMBRD1,
LYRM7, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS,
NBAS, NR1H4, OAT, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PRDX1, RINT1,
SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A42, SLC7A7, TANGO2, TAZ,
TMEM70, TUFM, UMPS, UQCRC2, YARS2

6230

代謝/
新生児

ABCB4, ABCD1, ADSL, ALAD, ALDH5A1, AMACR, AMT, ANK3, AP1S1, ARG1, ARSA, ARX, ASL,
ASS1, ATP13A2, ATP1A3, ATP2A2, ATP7B, B4GALNT1, BCKDHA, BCKDHB, BCKDK, C19ORF12,
CA5A, CACNA1A, CBS, CHCHD10, CLCN2, CLCN4, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLPX,
CNTNAP2, COASY, COL4A1, CP, CPOX, CPS1, CSTB, CTSD, CYP27A1, DARS, DBH, DBT,
DCAF17, DDC, DEPDC5, DLD, DNAJC12, DNAJC6, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4,
EIF2B5, EPM2A, FA2H, FAH, FECH, FIG4, FOLR1, FUCA1, GALC, GAMT, GATM, GCH1, GFAP,
GLA, GLB1, GLDC, GM2A, GNS, GRIA3, GSS, HARS, HEXA, HEXB, HGSNAT, HMBS, HMGCL,
Invitae精神症状を伴うメンデル
HPRT1, HTRA1, IQSEC2, KCNT1, KCTD17, MAN2B1, MANBA, MAOA, MECP2, MED12, MFSD8,
遺伝病パネルMMACHC, MMADHC, MSTO1, MTHFR, MTR, MUT, NAGLU, NAGS, NDP, NHLRC1, NPC1, NPC2,
Invitae Mendelian Disorders with Psychiatric
OTC, PAH, PAK3, PANK2, PCBD1, PCCA, PCCB, PCDH19, PLA2G6, PLP1, POLG, PPOX, PPT1,
Symptoms Panel
PRDX1, PRKAR1A, PRODH, PSAP, PTS, QDPR, REPS1, RPS6KA3, SETX, SGCE, SGSH, SLC12A6,
SLC20A2, SLC25A13, SLC25A15, SLC30A10, SLC39A14, SLC52A1, SLC52A2, SLC52A3, SLC6A19,
SLC6A3, SLC6A8, SLC7A7, SPART, SPG11, SPR, SUMF1, TBC1D7, TBX1, TH, TIMM8A, TOR1A,
TREX1, TRRAP, TTC19, TWNK, TYMP, TYROBP, UBQLN2, UROD, UROS, VPS13A, WDR45, WFS1,YWHAG, ZFYVE26

6228

代謝/
新生児

6229

代謝/
新生児

Invitae代謝性非免疫胎児水腫パネル
Invitae Metabolic Non-Immune Fetal
Hydrops Panel

AHCY, ALG1, ALG12, ALG8, ALG9, ARSB, ASAH1, CTSA, DHCR7, G6PD, GAA, GALC, GALNS,
GBE1, GLB1, GLUL, GNPTAB, GUSB, HADH, HADHA, HADHB, IDUA, LIPA, MVK, NEU1, NPC1,
NPC2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6,
PEX7, PHGDH, PIGA, PMM2, PSAT1, SLC17A5, SLC22A5, SLC26A2, SMPD1, SUMF1, TAZ, TRIP11

6227

代謝/
新生児

Invitae原発性高シュウ酸尿症パネル
Invitae Primary Hyperoxaluria Panel

AGXT, GRHPR, HOGA1

72039

代謝/
新生児

Invitae低リン血症パネル
Invitae Hypophosphatemia Panel

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, GNAS,
OCRL, PHEX, SLC34A1, SLC34A3, VDR

55003

代謝/
新生児

Invitae包括的なポルフィリン症パネル
Invitae Comprehensive Porphyrias Panel

ALAD, ALAS2, CLPX, CPOX, FECH, GATA1, HMBS, PPOX, UROD, UROS

23

55002

代謝/
新生児

AARS, AARS2, ABAT, ABCA1, ABCD1, ABCD4, ABHD5, ACADS, ACBD5, ACER3, ACO2, ACOX1,
ACP5, ACSF3, ACTA2, ACTB, ACY1, ADAR, ADGRG1, ADK, ADNP, ADSL, AGA, AHDC1, AHI1,
AIFM1, AIMP1, AIMP2, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALG12, ALG13, ALG2, ALG6,
ALG9, AMACR, AMPD2, AMT, ANK3, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2,APOPT1, ARCN1, ARFGEF2, ARHGAP31, ARHGEF9, ARNT2, ARSA, ARX, ASL, ASNS, ASPA,
ASS1, ASXL1, ASXL2, ATP13A2, ATP5A1, ATP6AP2, ATP6V1A, ATP7A, ATP7B, ATP8A2, ATPAF2,
ATRN, ATRX, AUH, B3GALNT2, B4GALNT1, BCAP31, BCAT2, BCKDHA, BCKDHB, BCL11B, BCS1L,
BICD2, BMP4, BOLA3, BPTF, BRAT1, BTD, C12ORF57, C12ORF65, C19ORF12, C2CD3, CACNA1A,
CACNA1E, CARS2, CBS, CC2D2A, CCDC88A, CDC42, CDKL5, CEP290, CHMP1A, CLCN2, CLCN4,
CLCN7, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNNM2, CNOT1, CNTNAP1,
CNTNAP2, COA7, COASY, COG7, COL18A1, COL3A1, COL4A1, COL4A2, COLGALT1, COQ2,
COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, COX8A,CPLANE1, CPLX1, CPS1, CRAT, CREBBP, CRIPT, CRLF1, CSF1R, CSPP1, CTBP1, CTC1, CTDP1,
CTNS, CTSA, CTSD, CUL4B, CYB5R3, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1,
DARS, DARS2, DBT, DCAF17, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEGS1,
DGUOK, DHCR24, DHFR, DHX37, DLD, DLL4, DMXL2, DNM1L, DNM2, DOCK6, DOCK7, DOLK,DONSON, DPAGT1, DPM1, DPM2, DPM3, DPYS, DYRK1A, EARS2, EDNRB, EHMT1, EIF2AK1,
EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ENTPD1, EOGT, EPG5,
EPRS, ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXOSC2, EXOSC3,EXOSC8, EXOSC9, FA2H, FAM126A, FAR1, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGFRL1, FH,
FIG4, FKRP, FKTN, FLVCR2, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, FUK, GAA, GABBR2,GABRA1, GABRB1, GABRB2, GABRB3, GALC, GALT, GAN, GATAD2B, GCDH, GDAP1, GFAP,
GFM1, GFM2, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLRX5, GLUL, GLYCTK, GM2A, GMNN,
GNAO1, GNS, GOT2, GPHN, GRIN1, GRM7, GTF2H5, GTPBP2, HACE1, HCN1, HEPACAM, HERC1,HEXA, HEXB, HIBCH, HIKESHI, HK1, HLCS, HMGCL, HNRNPU, HSD17B10, HSD17B4, HSPD1,
IARS, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INPP5E, IREB2, ISCA1, ISCA2, ITPA, ITPR1,
IVD, JAM3, KARS, KAT6B, KATNB1, KCNJ10, KCNJ2, KCNMA1, KCNT1, KCTD7, KDM1A, KIAA0556,
KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KLHL7, KMT2E, L2HGDH, LAGE3, LAMA1, LAMA2,
LAMB1, LARGE1, LARS2, LETM1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MAG, MAGEL2,
Invitae白質ジストロフィーと遺伝性白質脳 MAN2B1, MANBA, MARS2, MAST1, MAT1A, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MED17,症パネル
MED25, MEF2C, MFSD2A, MFSD8, MGP, MICU1, MKS1, MLC1, MLYCD, MMACHC, MMADHC,
MOCS1, MOCS2, MOGS, MORC2, MPLKIP, MPV17, MPZ, MRPL12, MRPL44, MRPS16, MRPS22,
Invitae Leukodystrophy and Genetic
Leukoencephalopathy Panel
MRPS34, MSTO1, MTFMT, MTHFR, MTHFS, MTO1, MTOR, MTR, MTRR, MUT, NACC1, NADK2,
NAGA, NAGLU, NAGS, NANS, NARS2, NAXD, NAXE, NDRG1, NDUFA1, NDUFA10, NDUFA11,
NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3,
NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1,NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NFE2L2,
NFU1, NGLY1, NKX6-2, NOTCH1, NPC1, NPC2, NPHP1, NRXN1, NSUN3, NT5C2, NTRK2, NUBPL,NUP62, OAT, OCRL, OPA1, OPA3, OSGEP, OTC, PACS1, PAFAH1B1, PAH, PANK2, PARS2, PAX1,
PC, PCCA, PCCB, PCDH12, PCGF2, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PET100, PEX1, PEX10,
PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1,
PGK1, PHGDH, PHYH, PIGA, PIGB, PIGG, PIGL, PIGM, PIGN, PIGP, PIGQ, PIGT, PIGU, PIGV,PIK3C2A, PIK3R2, PLA2G6, PLAA, PLEKHG2, PLP1, PMM2, PMP22, PNKP, PNPT1, POLG, POLG2,
POLR1A, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PPP1R15B, PPP2R1A,
PPP3CA, PPT1, PRF1, PRKDC, PRODH, PROSC, PRPS1, PRUNE1, PSAP, PSAT1, PSPH, PTEN,
PTPN23, PURA, PUS3, PYCR2, QARS, QRSL1, RAB11B, RAB3GAP1, RAB3GAP2, RARS, RARS2,
RBPJ, REPS1, RERE, RHOBTB2, RIN2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,
RPGRIP1L, RPIA, RPS6KC1, RRM2B, RTTN, RXYLT1, SAMD9L, SAMHD1, SCN3A, SCO1, SCO2,
SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SETBP1, SGSH, SH3TC2, SHOC2, SHPK,SLC12A2, SLC12A5, SLC12A6, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2,
SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A4, SLC25A42,
SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A2, SLC39A14, SLC39A8, SLC46A1, SLC6A19,
SLC6A8, SLC6A9, SLC9A1, SLC9A6, SMC1A, SNAP29, SNIP1, SNORD118, SNRPB, SNX14, SOD1,
SON, SOX10, SOX2, SPART, SPAST, SPATA5, SPG11, SPG7, SPTAN1, SQSTM1, SRD5A3, SSR4,
ST3GAL5, STAG2, STAMBP, STAT1, STAT2, STN1, STRADA, STX11, STXBP1, STXBP2, SUCLA2,SUCLG1, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, TACO1, TAF2, TANGO2, TARS2, TBC1D24,
TBCD, TBCE, TBCK, TBX1, TCF4, TCTN2, TIMM50, TIMMDC1, TM4SF20, TMEM106B, TMEM126B,
TMEM165, TMEM216, TMEM67, TMEM70, TMTC3, TOE1, TP53RK, TPI1, TPK1, TRAPPC11,
TRAPPC9, TREX1, TRMT10A, TRMT5, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2A,
TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TWNK, TXN2, TYMP, UBA5, UBE2A, UBE3A, UFM1,
UNC13D, UPB1, USP7, VARS2, VPS11, VPS13D, VPS33A, WARS2, WDR45, WDR73, WHSC1,
WWOX, YARS, YME1L1, ZEB2, ZFYVE26, ZIC1, ZNF335

72038

代謝/
新生児

InvitaeX-Linked低リン酸血症テスト
Invitae X-Linked Hypophosphatemia Test

PHEX

4305

代謝/
新生児

Invitae Achromatopsia Panel

ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP

24

98002

代謝/
新生児

Invitae核ミトコンドリア病パネル
Invitae Nuclear Mitochondrial Disorders
Panel

AARS2, AASS, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACO2, ADAR,AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH3A2, AMPD1, AMT, APOPT1, APTX, ATP5A1, ATP5D,
ATP5E, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C12ORF65, C19ORF12, C19ORF70,
C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CLPB, CLPP, COA3, COA5, COA6, COA7,
COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20,
COX4I2, COX6A1, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYC1, CYCS, D2HGDH, DARS2,
DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH,
ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FH, FLAD1, FOXRED1, GAMT, GARS, GATM, GCDH,
GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2,
HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B,
IFIH1, ISCA1, ISCA2, ISCU, KARS, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LIPT2, LMBRD1,
LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1,
MPV17, MRPL12, MRPL3, MRPL40, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23,
MRPS34, MRPS7, MSTO1, MTFMT, MTHFD1, MTO1, MTPAP, NADK2, NARS2, NAXE, NDUFA1,NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1,
NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB8,NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2,
NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1,
PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2,
PET100, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2,
PPOX, PSAP, PUS1, QARS, QRSL1, RANBP2, RARS, RARS2, REEP1, RMND1, RNASEH1,
RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2,
SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SIRT1, SLC19A2, SLC19A3, SLC22A5,
SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22,
SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2,
SLC52A3, SLC6A8, SLC7A13, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUCLG2,
SUGCT, SURF1, TACO1, TANGO2, TARS2, TAZ, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2,
TMEM126A, TMEM126B, TMEM70, TOP1MT, TOP3A, TPK1, TRAP1, TREX1, TRIT1, TRMT10C,
TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB,UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

98005

代謝/
新生児

Invitae包括的な神経代謝障害パネル
Invitae Comprehensive Neurometabolic
Disorders Panel

ABAT, ABCD1, ABCD4, ACAT1, ACO2, ADSL, AGA, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1,
ALDH7A1, AMN, AMT, AP1S1, AP4M1, APTX, ARG1, ARHGEF9, ARSA, ASAH1, ASL, ASNS, ASPA,
ASS1, ATAD1, ATP13A2, ATP6AP1, ATP6AP2, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BCKDK,BSCL2, BSND, BTD, C19ORF12, CA5A, CAD, CASR, CBS, CD320, CLCNKB, CLDN16, CLDN19,
CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLPB, CNNM2, COASY, COQ2, COQ4, COQ6, COQ7,COQ8A, COQ8B, COQ9, CP, CPOX, CPS1, CRAT, CTSD, CUBN, CYP27A1, D2HGDH, DBH, DBT,
DCAF17, DDC, DHCR7, DHFR, DLAT, DLD, DNAJC12, EGF, ETFA, ETFB, ETFDH, ETHE1, FA2H,
FAM111A, FBXL4, FH, FOLR1, FTL, FUCA1, FXYD2, GAD1, GALC, GAMT, GATM, GCDH, GCH1,
GCLC, GIF, GJA1, GLA, GLB1, GLDC, GLRA1, GLRB, GLUD1, GNS, GOT2, GPHN, GSS, GTPBP2,GUSB, HCFC1, HEXA, HEXB, HGSNAT, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HPRT1,
HSD17B10, IDH2, IDS, IDUA, IVD, KCNA1, KCNJ10, KCTD7, KIF1A, L2HGDH, LIPA, LMBRD1,
MAN2B1, MAOA, MAT1A, MCCC1, MCCC2, MCEE, MFSD8, MLYCD, MMAA, MMAB, MMACHC,
MMADHC, MOCOS, MOCS1, MOCS2, MPV17, MSMO1, MTHFR, MTR, MTRR, MUT, NAGLU, NAGS,
NAXE, NGLY1, NPC1, NPC2, NT5C3A, OAT, OTC, OXCT1, PAH, PANK2, PC, PCBD1, PCCA, PCCB,PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14,
PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PGM3, PHGDH, PHYH, PLA2G6, PNP, PNPO,
POLG, PPM1K, PPT1, PRDX1, PROSC, PRPS1, PSAT1, PSPH, PTS, QDPR, RAPSN, REPS1,SCN4A, SCP2, SGSH, SLC12A1, SLC12A3, SLC13A5, SLC18A2, SLC19A1, SLC19A2, SLC19A3,
SLC1A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A42, SLC2A1, SLC30A10,
SLC33A1, SLC39A14, SLC39A8, SLC46A1, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SPR,SQSTM1, SUCLA2, SUCLG1, SUOX, TAT, TCN1, TCN2, TH, TPI1, TPK1, TRPM6, TTPA, TWNK,WDR45, XDH

4112

眼科

Invitaeバルデー・ビードル症候群パネル
Invitae Bardet-Biedl Syndrome Panel

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP164, CEP19,
CEP290, FBN3, IFT172, IFT27, IFT74, KIF7, LZTFL1, MKKS, MKS1, SCLT1, SDCCAG8, TRAPPC3,
TRIM32, TTC8, WDPCP

Invitae白内障パネル
Invitae Cataracts Panel

ABCA3, ABCB6, ABHD12, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BEST1, BFSP1,
BFSP2, CHMP4B, CLN3, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB,CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1,
CYP27A1, CYP51A1, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXC1,
FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3,
LEMD2, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6,
PEX10, PEX11B, PEX16, PEX2, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2,
RDH11, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1,
TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WDR87, WFS1, WRN, XYLT2

5132

眼科

25

Invitae先天性停止性夜盲パネル
CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRM6, GUCY2D,
Invitae Congenital Stationary Night Blindness
LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
Panel

4301

眼科

4302

眼科

Invitae角膜ジストロフィパネル
Invitae Corneal Dystrophies PanelCHRDL1, CHST6, COL17A1, COL5A1, COL8A2, CYP4V2, DCN, FOXE3, GJA8, GRHL2, GSN, KERA,
KRT12, KRT3, LCAT, LOXHD1, MAF, MIR184, NLRP1, OVOL2, PAX6, PIKFYVE, PITX2, PRDM5,
PXDN, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1, ZEB1, ZNF143, ZNF469

55015

眼科

Invitae緑内障パネル
Invitae Glaucoma Panel

ASB10, ATOH7, BMP4, COL4A1, COL8A2, CYP1B1, EXO5, FOXC1, FOXE3, LMX1B, LTBP2, MAF,
MFRP, MYOC, OPTN, PAX6, PIK3R1, PITX2, PITX3, PRPF8, PRSS56, PXDN, SH3PXD2B, SIX6,SLC4A4, TEK, WDR36

72100

眼科

Invitae遺伝性網膜疾患パネル
Invitae Inherited Retinal Disorders Panel

ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1,
ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9,
ARSG, ASRGL1, ATF6, ATOH7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7,
BBS9, BEST1, C10ORF11, C12ORF65, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4,
CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP250, CEP290, CEP41,
CEP78, CEP83, CERKL, CFAP410, CHM, CIB2, CISD2, CLCC1, CLN2 (TPP1), CLN3, CLN5, CLN6,
CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2,
COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRX, CSPP1, CTNNA1, CTSD,CWC27, CYP4V2, DHDDS, DHX32, DHX38, DNAJC17, DRAM2, DSCAML1, DTHD1, EFEMP1,ELOVL4, EMC1, ERCC6, EXOSC2, EYS, FAM161A, FBLN5, FLVCR1, FRMD7, FSCN2, FZD4, GDF6,
GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRM6, GRN, GUCA1A, GUCA1B,
GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43,
IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13,
KCNV2, KIAA0586, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LYST,LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MPDZ, MTPAP,
MTTP, MYO7A, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3,
NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OR2W3, OTX2, P3H2, PAX2, PAX6,
PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1,
PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7,
PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13,
PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP1, RBP3,
RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1,
ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGR (ORF15), RPGRIP1, RPGRIP1L, RS1,
RTN4IP1, SAG, SAMD11, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC45A2,
SLC7A14, SNRNP200, SPATA7, SPP2, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMED7,
TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS,
TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB,
TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B,
WDPCP, WDR19, WDR34, WFS1, WHRN, ZNF408, ZNF423, ZNF513

434345眼科

Invitae黄斑ジストロフィーパネル
Invitae Macular Dystrophy Panel

ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CFI, CHST6, CNGB3, CRB1, CRX, CTNNA1, DRAM2,
EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1, PRDM13,
PROM1, PRPH2, RAX2, RBP3, RBP4, RDH12, RDH5, RLBP1, RP1L1, RPGRIP1, RS1, SIX6, TIMP3

5142

眼科

Invitae小眼球症、無眼球症、コロボーマ（
MAC）および前眼部発育不全パネル
Invitae Microphthalmia, Anophthalmia,
Coloboma (MAC) and Anterior Segment
Dysgenesis Panel

ABCB6, ADAMTS18, ALDH1A3, ALX1, ASPH, BCOR, BMP4, BMP7, C12ORF57, CDON, CHD7,
COL4A1, CPAMD8, CRYAA, CRYBA4, CYP1B1, DCDC1, ELP4, ERCC2, ERCC5, ERCC6, FAT1,
FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF6, GJA1, GRIP1, HCCS, HESX1,
HMGB3, HMX1, ITPR1, KERA, MAB21L2, MFRP, MIR204, MITF, NAA10, NDP, OCRL, OTX2, PAX2,
PAX6, PITX2, PITX3, PORCN, PRDM5, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB,RAX, RBP4, RERE, SALL2, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6,
TBC1D20, TENM3, TFAP2A, UBE3B, VAX1, VSX1, VSX2, WNT2B, YAP1, ZDBF2, ZIC2

4213

眼科

Invitae OFCD症候群検査
InvitaeOculo-Facio-Cardio-Dental Syndrome
Test

BCOR

434348

眼科

Invitae眼皮膚白皮症パネル
Invitae Oculocutaneous Albinism Panel

AP3B1, AP3D1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, FRMD7, GPR143, HPS1, HPS3, HPS4,
HPS5, HPS6, LYST, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1

434349眼科

Invitae中隔視神経形成異常パネル
Invitae Septo-optic Dysplasia Panel

GLI2, HESX1, OTX2, PAX6, PROP1, SOX2, SOX3, TAX1BP3

26

55013眼科

InvitaeStickler症候群パネル
Invitae Stickler Syndrome Panel

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, LRP2, VCAN

4112

腎臓学

InvitaeBardet-Biedl症候群パネル
Invitae Bardet-Biedl Syndrome Panel

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP164, CEP19,
CEP290, FBN3, IFT172, IFT27, IFT74, KIF7, LZTFL1, MKKS, MKS1, SCLT1, SDCCAG8, TRAPPC3,
TRIM32, TTC8, WDPCP

4111

腎臓学

Invitae Joubert and Meckel-Gruber
Syndromes Panel

AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1,
INPP5E, KIAA0586, KIF7, MKS1, MRE11, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1,
TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

4113

腎臓学

IInvitaeネフロン癆パネル
Invitae Nephronophthisis Panel

AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, NEK8,
NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TCTN1, TMEM216, TMEM237,
TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

Invitae繊毛病パネル
Invitae Ciliopathies Panel

ADAMTS9, AHI1, AK7, ALG8, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC4, ARMC9, B9D1, B9D2,
BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11ORF70, C2CD3, C8ORF37,
CC2D2A, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CELSR2,
CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP410,
CFTR, CLUAP1, CPLANE1, CRB2, CSPP1, CTU2, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2,
DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11,DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2LI1, DZIP1L, EVC, EVC2, EXOC3L2, EXOC8, FAM186B,
FBN3, FGFR1, FGFR2, FGFR3, GANAB, GAS8, GLIS2, HNF1B, HYLS1, ICK, IFT122, IFT140, IFT172,
IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586,
KIAA0753, KIF14, KIF7, LRP5, LRRC56, LRRC6, LRRCC1, LZTFL1, MAPKBP1, MCIDAS, MKKS,
MKS1, MRE11, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIAS1, PIBF1,
PIH1D3, PKD2, PKHD1, PMM2, PRKCSH, RBM48, RCOR1, RPGR, RPGRIP1L, RSPH1, RSPH3,
RSPH4A, RSPH9, SCLT1, SDCCAG8, SEC63, SLC30A7, SPAG1, SUFU, TBC1D32, TCTEX1D2,
TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67,
TRAF3IP1, TRAPPC3, TRIM32, TTC21B, TTC26, TTC8, TXNDC15, USP9X, WDPCP, WDR19,
WDR34, WDR35, WDR60, XPNPEP3, ZMYND10, ZNF423

4102

腎臓学

4103

AGPS, ALPL, ASCC1, CEP120, CFAP410, CHUK, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1,
CREB3L1, CRTAP, CSPP1, DLL1, DLL3, DMRT2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2,
Invitae周産期致死骨格異形成および骨格繊毛FAM111A, FGFR2, FGFR3, GNPAT, GPX4, HES7, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43,
病パネル
IFT52, IFT74, IFT80, IFT81, IMPAD1, INPPL1, INTU, KIAA0586, KIAA0753, LBR, LFNG, LRP5,
腎臓学
Invitae Perinatal Lethal Skeletal Dysplasia MBTPS2, MESP2, NEK1, P3H1, PAM16, PEX5, PEX7, PPIB, RIPPLY2, SLC26A2, SLC35D1, SOX9,
and Skeletal Ciliopathies Panel
TBX6, TCTEX1D2, TMEM38B, TRAF3IP1, TRIP11, TRIP4, TRPV4, TTC21B, WDR19, WDR34,
WDR35, WDR60, WNT1, WNT3

4101

腎臓学

Invitae原発性線毛機能不全パネル
Invitae Primary Ciliary Dyskinesia Panel

AK7, ARMC4, C11ORF70, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO,
CEP164, CFAP298, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11,
DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, LRRC56, LRRC6,MCIDAS, NOTCH2, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10434341

腎臓学

Invitae先天性腎尿路異常（CAKUT）パネル
Invitae Congenital Anomalies of Kidney andUrinary Tract (CAKUT) Panel

ACE, AGT, AGTR1, BICC1, BNC2, CRKL, DCHS1, DSTYK, EYA1, FAT4, FGF20, FOXC1, FRAS1,
FREM1, FREM2, GATA3, GLI3, GREB1L, HNF1B, HOXA13, HPSE2, ITGA8, LRP4, NRIP1, PAX2,
PBX1, REN, RET, ROBO2, SALL1, SIX1, SIX2, SIX5, SLIT2, SOX17, TBX18, UMOD, VIPAS39,
VPS33B, WNT4, WT1

55008

腎臓学

Invitae嚢胞性腎疾患パネル
Invitae Cystic Kidney Disease Panel

ALG8, ANKS6, BICC1, CEP164, CEP290, CEP83, CEP89, COL4A1, CRB2, DCDC2, DICER1,DNAJB11, DZIP1L, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MAPKBP1, NEK8,NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD2, PKHD1, PRKCSH, RPGRIP1L, SDCCAG8,
SEC61A1, SEC63, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423

27

Invitaeネフローゼ症候群および巣状分節性糸 ACTN4, AMN, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, CLCN5, COL4A3, COL4A4,球体硬化症(FSGS)パネル
COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, DHTKD1, EMP2, FN1, INF2, ITGA3, ITGB4,
434347 腎臓学
Invitae Nephrotic Syndrome and Focal
KANK1, KANK2, KANK4, LAGE3, LAMA5, LAMB2, LMX1B, MAGI2, MYO1E, NPHS1, NPHS2,
Segmental Glomerulosclerosis (FSGS)NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OSGEP, PAX2, PDSS2, PLCE1,Panel
PODXL, PTPRO, SGPL1, SMARCAL1, TP53RK, TPRKB, TRPC6, WDR73, WT1, XPO5

腎臓学

Invitae腎尿細管性障害パネル
Invitae Renal Tubular Disorders Panel

ACE, AGT, AGTR1, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CASR, CLCNKB, CLDN16,
CLDN19, CNNM2, CUL3, EGF, FOXI1, FXYD2, GATM, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3,
MAGED2, NR3C2, OCRL, REN, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC34A1,
SLC4A1, SLC4A4, TRPM6, WNK1, WNK4

72037

腎臓学

Invitae腎結石パネル
Invitae Nephrolithiasis Panel

ADCY10, AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, ATP7B, CA2, CASR, CLCN5, CLCNKB,
CLDN16, CLDN19, CYP24A1, FAM20A, FOXI1, GPHN, GRHPR, HOGA1, HPRT1, KCNJ1, MOCOS,
MOCS1, MOCS2, OCRL, PEX6, PREPL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1,
SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, UMOD, VDR, XDH

55005

腎臓学

Invitaeアルポート症候群パネル
Invitae Alport Syndrome Panel

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9

4308

55012

腎臓学

ABCA3, ACE, AFF4, AGT, AGTR1, AK7, ALB, ARL6, ARMC4, BBIP1, BBS1, BBS10, BBS12, BBS2,
BBS4, BBS5, BBS7, BBS9, C11ORF70, C8ORF37, CCDC103, CCDC114, CCDC151, CCDC39,
CCDC40, CCDC65, CCNO, CD40, CD40LG, CEP164, CEP19, CEP290, CFAP298, CFTR, COPA,
CSF2RA, CSF2RB, CXCR4, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1,
Invitae新生児呼吸窮迫パネル
DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, ELANE, FBN3, FLNA,
FOXF1, GAS8, GATA2, HSD11B2, IFT172, IFT27, IFT74, IL1RN, INPPL1, ITGA3, KIF7, LRRC56,
Invitae Neonatal Respiratory Distress Panel
LRRC6, LZTFL1, MARS, MCIDAS, MKKS, MKS1, MTHFR, MTM1, NDST1, NKX2-1, NME8, NOTCH2,
OFD1, PARN, PIEZO2, PIH1D3, REN, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SARS2,
SCLT1, SDCCAG8, SFTPB, SFTPC, SLC27A4, SLC34A2, SLC7A7, SPAG1, TERC, TERT, TINF2,
TMEM165, TMEM173, TRAPPC3, TRIM32, TTC8, WDPCP, ZMYND10

55682

腎臓学

Invitae非典型溶血性尿毒症症候群および血栓性微小血管症パネル
Invitae Atypical Hemolytic Uremic Syndrome
and Thrombotic Microangiopathies Panel

ADAMTS13, C3, CD46, CD55, CD59, CFB, CFH, CFI, DGKE, INF2, MMACHC, PLG, THBD

Invitae進行性腎疾患パネル
Invitae Progressive Renal Disease Panel

ACE, ACTB, ACTN4, ADAMTS13, AGT, AGTR1, AHI1, ALG8, ALG9, ALMS1, AMN, ANKS6, ANLN,
APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL6, ATP6V0A4, ATP6V1B1, AVP, AVPR2, BBIP1,
BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BSND, CA2, CACNA1D, CACNA1H,
CASR, CD151, CD2AP, CDKN1C, CEP164, CEP19, CEP290, CEP83, CEP89, CFHR5, CHRM3,
CLCN5, CLCNKB, CLDN16, CLDN19, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6,
COQ8B, CPLANE1, CRB2, CTNS, CUBN, CYP24A1, DCDC2, DGKE, DHCR7, DICER1, DLC1,DNAJB11, DZIP1L, EGF, EMP2, EYA1, FAM20A, FAN1, FAT1, FN1, FOXI1, FOXP3, FREM1, GANAB,GATA3, GATM, GLA, GLIS2, GRHPR, GSN, HNF1A, HNF1B, HPRT1, HPSE2, HSD11B2, IFT122,
IFT140, IFT172, IFT27, IFT43, INF2, INVS, IQCB1, ITGA3, ITGA6, ITGB4, JAG1, KANK2, KANK4,
KAT6B, KCNJ1, KCNJ10, LAMA5, LAMB2, LCAT, LDHA, LMX1B, LPIN1, LRP4, LRP5, LYZ, LZTFL1,
MAGED2, MAGI2, MAPKBP1, MEFV, MKKS, MYH9, MYO1E, NEK8, NOTCH2, NPHP1, NPHP3,
NPHP4, NPHS1, NPHS2, NSDHL, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OFD1,
PAX2, PBX1, PDSS2, PHEX, PKD2, PKHD1, PLCE1, PODXL, PREPL, PTPRO, REN, RMND1,
RPGRIP1L, SALL1, SALL4, SARS2, SDCCAG8, SEC61A1, SEMA3E, SGPL1, SIX1, SIX5, SLC12A1,
SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC37A4, SLC41A1, SLC4A1, SLC4A4, SLC7A7,SMARCAL1, SYNPO, TBC1D8B, TMEM67, TNS2, TP63, TRIM32, TRPC6, TSC1, TSC2, TTC21B,
TTC8, UMOD, WDPCP, WDR19, WDR73, WT1, XPNPEP3, XPO5, ZNF423

75000

腎臓学

28

AARS, AIFM1, ATP1A1, BAG3, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DRP2, DYNC1H1,
Invitaeシャルコー・マリー・トゥース病総合
EGR2, FBLN5, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2,
パネル
3201 神経疾患
INF2, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPZ,
Invitae Charcot-Marie-Tooth Disease
MTMR2, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1,
Comprehensive Panel
SBF2, SH3TC2, SLC25A46, SPG11, SURF1, TFG, TRIM2, TRPV4, YARS

神経疾患

Invitae遺伝性感覚・自律神経
ニューロパシチーパネル
Invitae Hereditary Sensory and Autonomic
Neuropathy Panel

ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A,
SPTLC1, SPTLC2, WNK1

神経疾患

Invitae家族性自律神経障害検査
Invitae Familial Dysautonomia Test

ELP1

3251

神経疾患

Invitae遺伝性痙性対麻痺総合パネル
Invitae Hereditary Spastic Paraple gia
Comprehensive Panel

ABCD1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ATL1,
ATP13A2, B4GALNT1, BSCL2, C12ORF65, CAPN1, CPT1C, CYP27A1, CYP2U1, CYP7B1, DDHD1,
DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, GJC2, HACE1, HEXA, HSPD1, KCNA2,KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NKX6-2, NT5C2, PLP1, PNPLA6,RAB3GAP2, REEP1, REEP2, RTN2, SACS, SLC16A2, SPART, SPAST, SPG11, SPG21, SPG7,TECPR2, TFG, UCHL1, VAMP1, WASHC5, ZFYVE26

3240

神経疾患

3220

神経疾患

Invitae小径線維ニューロパチー検査
Invitae Small Fiber Neuropathy Test

SCN9A

3245

神経疾患

Invitae脊髄性筋萎縮症パネル
Invitae Spinal Muscular Atrophy Panel

SMN1, SMN2

Invitae脊髄性筋萎縮症STATパネル
Invitae Spinal Muscular Atrophy STAT Panel

SMN1, SMN2

3230

3461

73000 神経疾患

ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC9, FBXO38, GARS,
Invitae遺伝性運動神経障害パネル
HEXA, HINT1, HSPB1, HSPB8, IGHMBP2, MORC2, PLEKHG5, REEP1, SIGMAR1, SLC5A7, SMN1,
Invitae Hereditary Motor Neuropathies Panel
SMN2, TRPV4, UBA1, VAPB, VRK1

3291

ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1,
Invitae包括的な筋ジストロフィーパネル DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, GOSR2,
神経疾患 Invitae Comprehensive Muscular Dystrophy HNRNPDL, ISPD, ITGA7, LAMA2, LARGE1, LMNA, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1,
POMGNT2, POMK, POMT1, POMT2, RXYLT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TK2,
Test
TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

3361

ACTA1, ADSSL1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CACNA1S, CASQ1, CAV3, CCDC78, CFL2,
CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DES, DNAJB6, DNM2,
DYSF, FHL1, FKBP14, FLNC, GNE, GYG1, GYS1, HACD1, HNRNPA2B1, ISCU, KBTBD13, KCNJ2,
KLHL40, KLHL41, LAMP2, LDB3, LMNA, LMOD3, MAP3K20, MATR3, MEGF10, MICU1, MTM1,
MYH2, MYH7, MYL2, MYO18B, MYOT, MYPN, NEB, ORAI1, PYROXD1, RYR1, SCN4A, SELENON,
SMPX, SPEG, SQSTM1, STAC3, STIM1, TAZ, TIA1, TK2, TNNT1, TPM2, TPM3, TTN, VCP, VMA21

神経疾患

Invitae包括的なミオパチーパネル
Invitae Comprehensive Myopathy Panel

29

3280

神経疾患

Invitae包括的な神経筋障害パネル
Invitae Comprehensive Neuromuscular
Disorders Panel

ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ADSSL1, AGK, AGL, AGRN, AHCY, ALDOA, ALG14,
ALG2, AMACR, AMPD1, ANO5, ATP2A1, ATP7B, B3GALNT2, B4GAT1, BAG3, BIN1, C1QBP,
CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND,
CHRNE, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4,
COQ7, COQ8A, COQ9, COX15, COX20, COX6B1, CPT1A, CPT2, CRYAB, CTDP1, DAG1, DDC,
DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD,
ENO3, ETFA, ETFB, ETFDH, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA,GATM, GBE1, GFER, GFPT1, GMPPB, GNE, GOSR2, GYG1, GYS1, HACD1, HADH, HADHA,HADHB, HMBS, HNRNPA2B1, HNRNPDL, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41,
LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, MAN2B1, MAP3K20, MATR3,
MEGF10, MGME1, MICU1, MPV17, MTM1, MUSK, MYH2, MYH3, MYH7, MYL2, MYO18B, MYOT,
MYPN, NEB, OPA1, OPA3, ORAI1, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB,
PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1,
POMT2, PREPL, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1,SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC18A3, SLC22A5,
SLC25A20, SLC25A3, SLC25A4, SLC25A42, SLC5A7, SMCHD1, SMN1, SMN2, SMPX, SPEG,SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SYT2, TANGO2, TAZ, TCAP, TIA1, TK2, TNNT1,
TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRMT5, TSFM, TTN, TWNK, TYMP, VAMP1,
VCP, VMA21, YARS2

3292

神経疾患

Invitae先天性筋ジストロフィーパネル
Invitae Congenital Muscular Dystrophy
Panel

B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DPM1, DPM2,
DPM3, FKRP, FKTN, GMPPB, GOSR2, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1,
POMGNT2, POMK, POMT1, POMT2, RXYLT1, TCAP, TK2

3362

神経疾患

Invitae先天性ミオパチーパネル
Invitae Congenital Myopathy Panel

ACTA1, BIN1, CACNA1S, CCDC78, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, DNM2,
FKBP14, HACD1, KBTBD13, KLHL40, KLHL41, LMOD3, MAP3K20, MEGF10, MICU1, MTM1, MYH7,
MYL2, MYO18B, MYPN, NEB, PYROXD1, RYR1, SELENON, SPEG, STAC3, TK2, TNNT1, TPM2,
TPM3, TTN

3301

神経疾患

Invitaeジスロトフィン異常症検査
Invitae Dystrophinopathies TestDMD

ABHD5, ACAD9, ACADM, ACADVL, AGK, AGL, AHCY, ALDOA, AMACR, AMPD1, ANO5, ATP2A1,
ATP7B, B3GALNT2, B4GAT1, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CHAT, CHKB, COQ2,
COQ4, COQ7, COQ8A, COQ9, COX15, COX20, COX6B1, CPT1A, CPT2, CTDP1, DAG1, DGUOK,DMD, DNA2, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FBXL4,
Invitae横紋筋融解症および代謝性ミオパチ
FDX2, FHL1, FKRP, FKTN, FLAD1, GAA, GATM, GBE1, GFER, GMPPB, GYG1, GYS1, HADH,
ーパネル
53699 神経疾患
HADHA, HADHB, HMBS, ISCU, ISPD, ITGA7, LAMA2, LAMP2, LARGE1, LDHA, LPIN1, MAN2B1,
Invitae Rhabdomyolysis and Metabolic
MGME1, MICU1, MPV17, MYH3, OPA1, OPA3, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1,
Myopathy Panel
PHKA1, PHKB, PNPLA2, PNPLA8, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2,
PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SGCA, SGCB, SGCD,
SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC25A42, STAC3, SUCLA2,SUCLG1, TANGO2, TCAP, TK2, TNPO3, TRIM32, TRMT5, TSFM, TWNK, TYMP, YARS2

3304

神経疾患

Invitae肢帯型筋ジストロフィーパネル
Invitae Limb-Girdle Muscular Dystrophy
Panel

ANO5, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, GOSR2,HNRNPDL, ISPD, LAMA2, LMNA, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK,
POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TK2, TNPO3, TOR1AIP1,
TRAPPC11, TRIM32, TTN

3285

神経疾患

Invitae悪性高熱症感受性パネル
Invitae Malignant Hyperthermia
Susceptibility Panel

CACNA1S, RYR1, STAC3

3375

神経疾患

Invitae筋強直および先天性パラミオトニア
パネル
Invitae Myotonia and Paramyotonia
Congenita Panel

CLCN1, SCN4A

3373

神経疾患

Invitae周期性四肢麻痺パネル
Invitae Periodic Paralysis Panel

ATP1A2, CACNA1S, KCNJ2, MCM3AP, RYR1, SCN4A

30

Invitaeジストニア総合パネル
Invitae Dystonia Comprehensive Panel

ACTB, ADCY5, ANO3, ATP1A3, ATP7B, BCAP31, CIZ1, COL6A3, CYP27A1, GCH1, GNAL, GNAO1,
HEXA, HPCA, KCNMA1, KCTD17, KMT2B, MECR, PANK2, PLA2G6, PNKD, PRKN, PRKRA, PRRT2,
SGCE, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A, VAC14,
VPS13A, VPS13D, XPR1

3351

神経疾患

3503

神経疾患

3505

神経疾患

Invitae前頭側頭型認知症パネル
Invitae Frontotemporal Dementia Panel

CHCHD10, CHMP2B, DCTN1, FUS, GRN, HNRNPA2B1, MAPT, SQSTM1, TARDBP, TBK1, TREM2,UBQLN2, VCP

3504

神経疾患

Invitae遺伝性アルツハイマー病パネル
Invitae Hereditary Alzheimer’s Disease
Panel

APP, PSEN1, PSEN2

Invitae筋萎縮性側索硬化症パネル
ALS2, ANG, ANXA11, CHCHD10, DCTN1, ERBB4, FUS, HEXA, KIF5A, OPTN, PFN1, SETX, SOD1,
Invitae Amyotrophic Lateral Sclerosis Panel
SPG11, SQSTM1, TARDBP, TBK1, TFG, UBQLN2, VAPB, VCP

Invitae遺伝性筋萎縮性側索硬化症、前頭側頭型認知症およびアルツハイマー病パネル ALS2, ANG, ANXA11, APP, CHCHD10, CHMP2B, DCTN1, ERBB4, FUS, GRN, HEXA, HNRNPA2B1,
3502 神経疾患
ITM2B, KIF5A, MAPT, OPTN, PFN1, PRNP, PSEN1, PSEN2, SETX, SNCA, SOD1, SORL1, SPG11,
Invitae Hereditary Amyotrophic Lateral
Sclerosis, Frontotemporal Dementia andSQSTM1, TARDBP, TBK1, TFG, TREM2, UBQLN2, VAPB, VCP
Alzheimer Disease Panel
Invitae遺伝性パーキンソン病およびパーキ
ンソニズムパネル
3352 神経疾患
Invitae Hereditary Parkinson Disease andParkinsonism Panel

ATP13A2, ATP7B, CHCHD2, CSF1R, DCTN1, DNAJC6, FBXO7, GBA, GCH1, LRRK2, PARK7,PDE8B, PINK1, PLA2G6, PRKN, PRKRA, RAB39B, SLC6A3, SNCA, SPR, SYNJ1, TH, TMEM230,
VPS13C, VPS35, XPR1

3506 神経疾患

Invitaeプリオン病検査
Invitae Hereditary Prion Disease Test

PRNP

53700 神経疾患

Invitae家族性片麻痺性片頭痛パネル
Invitae Familial Hemiplegic Migraine Panel

ATP1A2, ATP1A3, CACNA1A, PRRT2, SCN1A, SLC1A3, SLC2A1

53701 神経疾患

Invitae遺伝性脳小血管疾患パネル
Invitae Hereditary Cerebral Small Vessel
Disease Panel

APP, CBS, COL4A1, COL4A2, CST3, FOXC1, GLA, HTRA1, NOTCH3, TREX1

53702 神経疾患

Invitae遺伝性もやもや病パネル
Invitae Hereditary Moyamoya Disease Panel

GUCY1A1, RNF213

神経疾患

Invitae Baraitser-Winter脳前頭顔症候群
パネル
Invitae Baraitser-Winter Cerebrofrontofacial
Syndrome Test

ACTB, ACTG1

Invitae脳奇形パネル
Invitae Brain Malformations Panel

ACTB, ACTG1, ADGRG1, ADNP, AHDC1, AKT3, AMPD2, APC2, ARFGEF2, ARID1A, ARID1B, ARX,
ASNS, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, BMP4, C19ORF12, CASK, CCM2, CCND2, CDK13,
CDK5, CDON, CHMP1A, CIT, CNOT1, CNOT3, COASY, COL18A1, COL3A1, COL4A1, COL4A2, CP,
CRADD, CUL4B, DAG1, DCHS1, DCX, DIAPH1, DISP1, DLL1, DMXL2, DPF2, DYNC1H1, EIF2AK2,
EMC1, EML1, ERMARD, EXOSC3, FA2H, FAT4, FGFR1, FIG4, FKRP, FKTN, FLNA, FOXA2, FTL,
GAS1, GLI2, GMPPB, GPSM2, GRIN2B, HIVEP2, IER3IP1, IQSEC2, ISPD, KATNB1, KCNMA1,
KIF11, KIF1BP, KIF2A, KIF7, KMT2E, KRIT1, L1CAM, LAMA1, LAMB1, LAMC3, LARGE1, LRP2,
MACF1, MED12, MED17, MFSD2A, MRE11, NDE1, NEDD4L, NPRL3, OCLN, OPHN1, PAFAH1B1,
PANK2, PDCD10, PHGDH, PIK3R2, PLA2G6, PNKP, POMGNT1, POMGNT2, POMK, POMT1,
POMT2, PPP1R12A, PTCH1, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBM10,
RELN, RERE, RTTN, RXYLT1, SEPSECS, SHH, SIN3A, SIX3, SLC25A19, SMARCA4, SMARCB1,SMARCE1, SMC1A, SNAP29, SON, SOX2, SRD5A3, STAG2, STAMBP, STIL, TBC1D20, TGIF1,
TMTC3, TOE1, TRRAP, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3,
TUBB4A, TUBG1, TUBGCP6, UBE3B, USP7, USP9X, VLDLR, VPS13A, VRK1, WDR45, WDR62,
YWHAE, ZBTB18, ZBTB20, ZIC2, ZMIZ1

4741

55006 神経疾患

31

4422

神経疾患

Invitae脳海綿状血管腫パネル
Invitae Cerebral Cavernous Malformations
Panel

CCM2, KRIT1, PDCD10

3404

神経疾患

Invitae Rett/Angelmanおよび関連障害パネルInvitae Rett/Angelman and Related
Disorders Panel

ADSL, ALDH5A1, ARX, ATRX, CAMK2B, CDKL5, CLTC, CNTNAP2, CTNNB1, DDX3X, DYRK1A,
EHMT1, FOLR1, FOXG1, GABBR2, GRIA3, GRIN2A, GRIN2B, HDAC8, IQSEC2, KANSL1, KCNA2,
MBD5, MECP2, MEF2C, NGLY1, NRXN1, SATB2, SCN2A, SCN8A, SLC6A1, SLC9A6, SMC1A,STXBP1, SYNGAP1, TBL1XR1, TCF4, UBE3A, WDR45, ZEB2

4424

神経疾患

Invitae全前脳症パネル
Invitae Holoprosencephaly Panel

FGFR1, GLI2, SHH, SIX3, TGIF1, ZIC2

Invitae白質ジストロフィーと遺伝性
白質脳症パネル
Invitae Leukodystrophy and Genetic
Leukoencephalopathy Panel

AARS, AARS2, ABAT, ABCA1, ABCD1, ABCD4, ABHD5, ACADS, ACBD5, ACER3, ACO2, ACOX1,
ACP5, ACSF3, ACTA2, ACTB, ACY1, ADAR, ADGRG1, ADK, ADNP, ADSL, AGA, AHDC1, AHI1,
AIFM1, AIMP1, AIMP2, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALG12, ALG13, ALG2, ALG6,
ALG9, AMACR, AMPD2, AMT, ANK3, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2,APOPT1, ARCN1, ARFGEF2, ARHGAP31, ARHGEF9, ARNT2, ARSA, ARX, ASL, ASNS, ASPA,
ASS1, ASXL1, ASXL2, ATP13A2, ATP5A1, ATP6AP2, ATP6V1A, ATP7A, ATP7B, ATP8A2, ATPAF2,
ATRN, ATRX, AUH, B3GALNT2, B4GALNT1, BCAP31, BCAT2, BCKDHA, BCKDHB, BCL11B, BCS1L,
BICD2, BMP4, BOLA3, BPTF, BRAT1, BTD, C12ORF57, C12ORF65, C19ORF12, C2CD3, CACNA1A,
CACNA1E, CARS2, CBS, CC2D2A, CCDC88A, CDC42, CDKL5, CEP290, CHMP1A, CLCN2, CLCN4,
CLCN7, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNNM2, CNOT1, CNTNAP1,
CNTNAP2, COA7, COASY, COG7, COL18A1, COL3A1, COL4A1, COL4A2, COLGALT1, COQ2,
COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, COX8A,CPLANE1, CPLX1, CPS1, CRAT, CREBBP, CRIPT, CRLF1, CSF1R, CSPP1, CTBP1, CTC1, CTDP1,
CTNS, CTSA, CTSD, CUL4B, CYB5R3, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1,
DARS, DARS2, DBT, DCAF17, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEGS1,
DGUOK, DHCR24, DHFR, DHX37, DLD, DLL4, DMXL2, DNM1L, DNM2, DOCK6, DOCK7, DOLK,DONSON, DPAGT1, DPM1, DPM2, DPM3, DPYS, DYRK1A, EARS2, EDNRB, EHMT1, EIF2AK1,
EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ENTPD1, EOGT, EPG5,
EPRS, ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXOSC2, EXOSC3,EXOSC8, EXOSC9, FA2H, FAM126A, FAR1, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGFRL1, FH,
FIG4, FKRP, FKTN, FLVCR2, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, FUK, GAA, GABBR2,GABRA1, GABRB1, GABRB2, GABRB3, GALC, GALT, GAN, GATAD2B, GCDH, GDAP1, GFAP,
GFM1, GFM2, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLRX5, GLUL, GLYCTK, GM2A, GMNN,
GNAO1, GNS, GOT2, GPHN, GRIN1, GRM7, GTF2H5, GTPBP2, HACE1, HCN1, HEPACAM, HERC1,HEXA, HEXB, HIBCH, HIKESHI, HK1, HLCS, HMGCL, HNRNPU, HSD17B10, HSD17B4, HSPD1,
IARS, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INPP5E, IREB2, ISCA1, ISCA2, ITPA, ITPR1,
IVD, JAM3, KARS, KAT6B, KATNB1, KCNJ10, KCNJ2, KCNMA1, KCNT1, KCTD7, KDM1A, KIAA0556,
KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KLHL7, KMT2E, L2HGDH, LAGE3, LAMA1, LAMA2,
LAMB1, LARGE1, LARS2, LETM1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MAG, MAGEL2,
MAN2B1, MANBA, MARS2, MAST1, MAT1A, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MED17,
MED25, MEF2C, MFSD2A, MFSD8, MGP, MICU1, MKS1, MLC1, MLYCD, MMACHC, MMADHC,
MOCS1, MOCS2, MOGS, MORC2, MPLKIP, MPV17, MPZ, MRPL12, MRPL44, MRPS16, MRPS22,
MRPS34, MSTO1, MTFMT, MTHFR, MTHFS, MTO1, MTOR, MTR, MTRR, MUT, NACC1, NADK2,
NAGA, NAGLU, NAGS, NANS, NARS2, NAXD, NAXE, NDRG1, NDUFA1, NDUFA10, NDUFA11,
NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3,
NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1,NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NFE2L2,
NFU1, NGLY1, NKX6-2, NOTCH1, NPC1, NPC2, NPHP1, NRXN1, NSUN3, NT5C2, NTRK2, NUBPL,NUP62, OAT, OCRL, OPA1, OPA3, OSGEP, OTC, PACS1, PAFAH1B1, PAH, PANK2, PARS2, PAX1,
PC, PCCA, PCCB, PCDH12, PCGF2, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PET100, PEX1, PEX10,
PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1,
PGK1, PHGDH, PHYH, PIGA, PIGB, PIGG, PIGL, PIGM, PIGN, PIGP, PIGQ, PIGT, PIGU, PIGV,PIK3C2A, PIK3R2, PLA2G6, PLAA, PLEKHG2, PLP1, PMM2, PMP22, PNKP, PNPT1, POLG, POLG2,
POLR1A, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PPP1R15B, PPP2R1A,
PPP3CA, PPT1, PRF1, PRKDC, PRODH, PROSC, PRPS1, PRUNE1, PSAP, PSAT1, PSPH, PTEN,
PTPN23, PURA, PUS3, PYCR2, QARS, QRSL1, RAB11B, RAB3GAP1, RAB3GAP2, RARS, RARS2,
RBPJ, REPS1, RERE, RHOBTB2, RIN2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,
RPGRIP1L, RPIA, RPS6KC1, RRM2B, RTTN, RXYLT1, SAMD9L, SAMHD1, SCN3A, SCO1, SCO2,
SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SETBP1, SGSH, SH3TC2, SHOC2, SHPK,SLC12A2, SLC12A5, SLC12A6, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2,
SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A4, SLC25A42,
SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A2, SLC39A14, SLC39A8, SLC46A1, SLC6A19,
SLC6A8, SLC6A9, SLC9A1, SLC9A6, SMC1A, SNAP29, SNIP1, SNORD118, SNRPB, SNX14, SOD1,
SON, SOX10, SOX2, SPART, SPAST, SPATA5, SPG11, SPG7, SPTAN1, SQSTM1, SRD5A3, SSR4,
ST3GAL5, STAG2, STAMBP, STAT1, STAT2, STN1, STRADA, STX11, STXBP1, STXBP2, SUCLA2,SUCLG1, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, TACO1, TAF2, TANGO2, TARS2, TBC1D24,
TBCD, TBCE, TBCK, TBX1, TCF4, TCTN2, TIMM50, TIMMDC1, TM4SF20, TMEM106B, TMEM126B,
TMEM165, TMEM216, TMEM67, TMEM70, TMTC3, TOE1, TP53RK, TPI1, TPK1, TRAPPC11,
TRAPPC9, TREX1, TRMT10A, TRMT5, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2A,
TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TWNK, TXN2, TYMP, UBA5, UBE2A, UBE3A, UFM1,
UNC13D, UPB1, USP7, VARS2, VPS11, VPS13D, VPS33A, WARS2, WDR45, WDR73, WHSC1,
WWOX, YARS, YME1L1, ZEB2, ZFYVE26, ZIC1, ZNF335

55002

神経疾患

32

434349 神経疾患

Invitae中隔視神経形成異常パネル
Invitae Septo-optic Dysplasia Panel

GLI2, HESX1, OTX2, PAX6, PROP1, SOX2, SOX3, TAX1BP3

Invitae結節性硬化症複合パネル
Invitae Tuberous Sclerosis Complex Panel

TSC1, TSC2

1721

神経疾患

3200

AARS, AIFM1, APOA1, ASAH1, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CHCHD10,
COX6A1, CYP27A1, CYP7B1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1,
EGR2, ELP1 , EXOSC9, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4,
GSN, HARS, HEXA, HINT1, HMBS, HSPB1, HSPB8, IGHMBP2, INF2, KIF1A, KIF5A, LITAF, LMNA ,包括的なニューロパシーパネル
LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL,
神経疾患
Invitae Comprehensive Neuropathies Panel
NGF, NTRK1, PDK3, PLEKHG5, PMP2, PMP22, POLG, POLG2, PRDM12, PRPS1, PRX,RAB7A,REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SIGMAR1, SLC12A6,
SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SPG11, SPTLC1, SPTLC2, SURF1, TFG,
TRIM2, TRPV4 , TTR, UBA1, VAPB, VRK1, WNK1, YARS

3281

神経疾患

3401

神経疾患

Invitae先天性筋無力症候群パネル
Invitae Congenital Myasthenic Syndrome
Panel

AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7,DPAGT1, GFPT1, GMPPB, MUSK, PREPL, RAPSN, SLC18A3, SLC5A7, SYT2, VAMP1

Invitaeてんかんパネル
Invitae Epilepsy Panel

AARS, ABAT, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG6, AMACR, AMT,
AP2M1, AP3B2, ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS, ATAD1, ATP1A1, ATP1A2, ATP1A3,
ATP6AP2, ATP7A, ATRX, BRAT1, C12ORF57, CACNA1A, CACNA1B, CACNA1E, CACNA2D2, CAD,CAMK2B, CARS2, CASK, CCDC88A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLCN6,
CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLTC, CNTN2, CNTNAP2, COG5, COL18A1, CSTB,CTNNB1, CTSD, CYFIP2, CYP27A1, DDC, DDX3X, DEAF1, DENND5A, DEPDC5, DHDDS, DHFR,
DIAPH1, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DYNC1H1, DYRK1A, ECHS1, EEF1A2, EHMT1,
EMC1, EPM2A, FAR1, FARS2, FBXO11, FGF12, FLNA, FOLR1, FOXG1, FOXP1, FRRS1L, GABBR2,GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRG2, GAMT, GATAD2B, GATM, GCH1,
GLDC, GLRA1, GLRB, GNAO1, GNB1, GOSR2, GPAA1, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B,
GRIN2D, GTPBP3, HCN1, HDAC8, HEXA, HNRNPU, IER3IP1, IFIH1, IQSEC2, ITPA, KANSL1,
KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNK4, KCNMA1,
KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD7, KIF1A, KIF2A, KIF5A, KPNA7, LAMC3, LGI1, LIAS,
MBD5, MDH2, MECP2, MEF2C, MFSD8, MICAL1, MOCS1, MOCS2, MTOR, NACC1, NAGLU,
NECAP1, NEDD4L, NEXMIF, NGLY1, NHLRC1, NPC1, NPC2, NPRL3, NRXN1, NTRK2, NUS1,
PACS1, PACS2, PAFAH1B1, PCDH19, PCLO, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19,
PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PIGA, PIGB, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGV,
PIGW, PLAA, PLCB1, PNKD, PNKP, PNPO, PNPT1, POLG, PPP2CA, PPP2R1A, PPP2R5D,
PPP3CA, PPT1, PRICKLE1, PRIMA1, PROSC, PRRT2, PSAP, PSAT1, PSPH, PTEN, PTPN23,
PURA, QARS, QDPR, RAB11A, RAB11B, RAI1, RALA, RANBP2, RELN, RFT1, RHOBTB2,RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RORB, RUSC2, SAMHD1, SATB2, SCARB2,SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCP2, SERPINI1, SETBP1, SGCE, SGSH, SIK1,
SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1,
SLC6A5, SLC6A8, SLC9A6, SMC1A, SNAP25, SNX27, SPATA5, SPTAN1, ST3GAL3, ST3GAL5,
STAG2, STRADA, STX1B, STXBP1, STXBP2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1,
SZT2, TANGO2, TBC1D24, TBCK, TBL1XR1, TCF4, TH, TK2, TPK1, TREX1, TRIM8, TSC1, TSC2,
TSFM, TUBB2A, UBA5, UBE3A, UNC80, WDR45, WWOX, YWHAG, ZDHHC9, ZEB2, ZSWIM6

Invitae C9orf72を伴う遺伝性ALS、前頭側頭型
認知症およびアルツハイマー病パネル
444004 神経疾患
Invitae Hereditary Amyotrophic Lateral
Sclerosis, Frontotemporal Dementia and
Alzheimer Disease with C9orf72 Panel

ALS2, ANG, ANXA11, APP, C9ORF72, CHCHD10, CHMP2B, DCTN1, ERBB4, FUS, GRN,HEXA, HNRNPA2B1, ITM2B, KIF5A, MAPT, OPTN, PFN1, PRNP, PSEN1, PSEN2, SETX,
SNCA, SOD1, SORL1, SPG11, SQSTM1, TARDBP, TBK1, TFG, TREM2, UBQLN2, VAPB,
VCP

33

728434

神経疾患

Invitae神経発達障害（NDD）パネル
Invitae Neurodevelopmental Disorders(NDD) Panel

ACTB, ACTG1, ADNP, ADSL, AGA, AHDC1, ALDH5A1, ALDH7A1, AMER1, ANKRD11, AP1S2,
ARG1, ARID1A, ARID1B, ARSA, ARX, ASNS, ASXL1, ATP1A3, ATP7A, ATRX, AUTS2, BCAP31,
BRAF, BRAT1, BRD4, BRWD3, CACNA1A, CACNA1E, CAMK2B, CASK, CBL, CC2D2A, CDK13,
CDKL5, CHD2, CHD7, CHD8, CLCN4, CLN2 (TPP1), CLN3, CLN5, CLN6, CLTC, CNTNAP2, COL4A1,
CREBBP, CTNNB1, CUL3, DDC, DDX3X, DEAF1, DHCR7, DNM1L, DNMT3A, DOCK6, DPF2,
DYNC1H1, DYRK1A, EEF1A2, EFTUD2, EHMT1, EP300, EZH2, FGD1, FOLR1, FOXG1, FOXP1,GABBR2, GABRB3, GABRG2, GALC, GAMT, GATAD2B, GATM, GLB1, GM2A, GNAO1, GNAS, GNS,
GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNRNPK,HNRNPU, HRAS, HUWE1, IDS, IDUA, IGF1R, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B,
KCNA2, KCNB1, KCNH1, KCNQ2, KCNT1, KDM5C, KDM6A, KIF1A, KMT2A, KMT2B, KMT2D,
KMT2E, KRAS, L1CAM, LZTR1, MAGEL2, MAN1B1, MAP2K1, MAP2K2, MBD5, MECP2, MED12,
MED13L, MEF2C, MFSD8, MID1, MTOR, NAA10, NAA15, NAGLU, NALCN, NEXMIF, NF1, NFIA,
NFIX, NGLY1, NHS, NIPBL, NONO, NPC1, NR2F1, NRAS, NRXN1, NSD1, NSUN2, OCRL, OPHN1,
OTC, PACS1, PACS2, PAH, PCBD1, PCDH19, PDHA1, PGAP3, PHF21A, PHF6, PHIP, PLA2G6,
PMM2, POLG, PPM1D, PPP1CB, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PTEN, PTPN11,
PTS, PURA, QDPR, RAD21, RAF1, RAI1, RBM10, RIT1, RPS6KA3, SATB2, SCN1A, SCN1B, SCN2A,
SCN3A, SCN8A, SETBP1, SETD5, SGSH, SHOC2, SIN3A, SLC13A5, SLC16A2, SLC2A1, SLC6A1,
SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SON, SOS1,
SOS2, SOX11, SPAST, SPATA5, SPTAN1, STAG1, STXBP1, SURF1, SYNGAP1, TAF1, TBCK,TBL1XR1, TCF20, TCF4, TELO2, TRAPPC9, TRRAP, TSC1, TSC2, TUBA1A, UBE3A, UNC80,
USP9X, VPS13B, WDR45, WWOX, ZBTB18, ZBTB20, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZMIZ1,ZMYND11

1745

小児
遺伝学

Invitae慢性膵炎パネル
Invitae Chronic Pancreatitis Panel

CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1, TRPV6

AIP, ALK, APC, BAP1, BLM, BMPR1A, BUB1B, CDC73, CDK4, CDKN1B, CDKN1C, CDKN2A, CEP57,
DICER1, DIS3L2, EPCAM, EXT1, EXT2, FH, GPC3, HRAS, LZTR1, MAX, MEN1, MITF, MLH1, MSH2,
Invitae 遺伝性小児固形腫瘍パネル
Invitae Hereditary Pediatric Solid Tumors
MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, RB1, RECQL4, REST,
RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11,
Panel
SUFU, TMEM127, TP53, TRIM28, TRIP13, TSC1, TSC2, VHL, WRN, WT1

1104

小児
遺伝学

55011

小児
遺伝学

Invitae 過成長症候群パネル
Invitae Overgrowth Syndromes Panel

ABCC9, AKT2, AKT3, ASPA, ASXL2, BRWD3, CCND2, CDKN1C, CHD4, CHD8, CUL4B, DICER1,
DIS3L2, DNMT3A, EED, EZH2, GFAP, GLI3, GNAS, GPC3, HEPACAM, HERC1, KPTN, L1CAM,
MED12, MLC1, MPDZ, MTOR, NFIA, NFIX, NONO, NPR2, NSD1, OFD1, PDGFRB, PHF21A, PIK3R2,
PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RASA1, RIN2, RNF125, SETD2, STRADA,SYN1, TBC1D7, TCF20, UPF3B, ZBTB20

4501

小児
遺伝学

Invitae過成長および巨頭症症候群パネル
Invitae Overgrowth and Macrocephaly
Syndromes Panel

AKT2, AKT3, CDKN1C, CUL4B, DIS3L2, DNMT3A, EZH2, GLI3, GPC3, KPTN, MED12, MTOR,
NF1, NFIX, NPR2, NSD1, PHF6, PIK3R2, PTEN, SETD2, SPRED1

Invitae脳奇形パネル
Invitae Brain Malformations Panel

ACTB, ACTG1, ADGRG1, ADNP, AHDC1, AKT3, AMPD2, APC2, ARFGEF2, ARID1A, ARID1B, ARX,
ASNS, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, BMP4, C19ORF12, CASK, CCM2, CCND2, CDK13,
CDK5, CDON, CHMP1A, CIT, CNOT1, CNOT3, COASY, COL18A1, COL3A1, COL4A1, COL4A2, CP,
CRADD, CUL4B, DAG1, DCHS1, DCX, DIAPH1, DISP1, DLL1, DMXL2, DPF2, DYNC1H1, EIF2AK2,
EMC1, EML1, ERMARD, EXOSC3, FA2H, FAT4, FGFR1, FIG4, FKRP, FKTN, FLNA, FOXA2, FTL,
GAS1, GLI2, GMPPB, GPSM2, GRIN2B, HIVEP2, IER3IP1, IQSEC2, ISPD, KATNB1, KCNMA1,
KIF11, KIF1BP, KIF2A, KIF7, KMT2E, KRIT1, L1CAM, LAMA1, LAMB1, LAMC3, LARGE1, LRP2,
MACF1, MED12, MED17, MFSD2A, MRE11, NDE1, NEDD4L, NPRL3, OCLN, OPHN1, PAFAH1B1,
PANK2, PDCD10, PHGDH, PIK3R2, PLA2G6, PNKP, POMGNT1, POMGNT2, POMK, POMT1,
POMT2, PPP1R12A, PTCH1, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBM10,
RELN, RERE, RTTN, RXYLT1, SEPSECS, SHH, SIN3A, SIX3, SLC25A19, SMARCA4, SMARCB1,SMARCE1, SMC1A, SNAP29, SON, SOX2, SRD5A3, STAG2, STAMBP, STIL, TBC1D20, TGIF1,
TMTC3, TOE1, TRRAP, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3,
TUBB4A, TUBG1, TUBGCP6, UBE3B, USP7, USP9X, VLDLR, VPS13A, VRK1, WDR45, WDR62,
YWHAE, ZBTB18, ZBTB20, ZIC2, ZMIZ1

55006

小児
遺伝学

34

3404

小児
遺伝学

Invitae Rett/Angelmanおよび関連障害パネルInvitae Rett/Angelman and Related
Disorders Panel

ADSL, ALDH5A1, ARX, ATRX, CAMK2B, CDKL5, CLTC, CNTNAP2, CTNNB1, DDX3X, DYRK1A,
EHMT1, FOLR1, FOXG1, GABBR2, GRIA3, GRIN2A, GRIN2B, HDAC8, IQSEC2, KANSL1, KCNA2,
MBD5, MECP2, MEF2C, NGLY1, NRXN1, SATB2, SCN2A, SCN8A, SLC6A1, SLC9A6, SMC1A,STXBP1, SYNGAP1, TBL1XR1, TCF4, UBE3A, WDR45, ZEB2

434349

小児
遺伝学

Invitae中隔視神経形成異常パネル
Invitae Septo-optic Dysplasia Panel

GLI2, HESX1, OTX2, PAX6, PROP1, SOX2, SOX3, TAX1BP3

1721

小児
遺伝学

Invitae結節性硬化症複合パネル
Invitae Tuberous Sclerosis Complex Panel

TSC1, TSC2

4112

小児
遺伝学

InvitaeBardet-Biedl症候群パネル
Invitae Bardet-Biedl Syndrome Panel

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP164, CEP19,
CEP290, FBN3, IFT172, IFT27, IFT74, KIF7, LZTFL1, MKKS, MKS1, SCLT1, SDCCAG8, TRAPPC3,
TRIM32, TTC8, WDPCP

4102

小児
遺伝学

Invitae繊毛病パネル
Invitae Ciliopathies Panel

ADAMTS9, AHI1, AK7, ALG8, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC4, ARMC9, B9D1, B9D2,
BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11ORF70, C2CD3, C8ORF37,
CC2D2A, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CELSR2,
CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP410,
CFTR, CLUAP1, CPLANE1, CRB2, CSPP1, CTU2, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2,
DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11,DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2LI1, DZIP1L, EVC, EVC2, EXOC3L2, EXOC8, FAM186B,
FBN3, FGFR1, FGFR2, FGFR3, GANAB, GAS8, GLIS2, HNF1B, HYLS1, ICK, IFT122, IFT140, IFT172,
IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586,
KIAA0753, KIF14, KIF7, LRP5, LRRC56, LRRC6, LRRCC1, LZTFL1, MAPKBP1, MCIDAS, MKKS,
MKS1, MRE11, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIAS1, PIBF1,
PIH1D3, PKD2, PKHD1, PMM2, PRKCSH, RBM48, RCOR1, RPGR, RPGRIP1L, RSPH1, RSPH3,
RSPH4A, RSPH9, SCLT1, SDCCAG8, SEC63, SLC30A7, SPAG1, SUFU, TBC1D32, TCTEX1D2,
TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67,
TRAF3IP1, TRAPPC3, TRIM32, TTC21B, TTC26, TTC8, TXNDC15, USP9X, WDPCP, WDR19,
WDR34, WDR35, WDR60, XPNPEP3, ZMYND10, ZNF423

4113

小児
遺伝学

InvitaeNephronophthisisパネル
Invitae Nephronophthisis Panel

AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, NEK8,
NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TCTN1, TMEM216, TMEM237,
TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

4103

小児
遺伝学

AGPS, ALPL, ASCC1, CEP120, CFAP410, CHUK, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1,
CREB3L1, CRTAP, CSPP1, DLL1, DLL3, DMRT2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2,
Invitae周産期致死骨格異形成および骨格繊FAM111A, FGFR2, FGFR3, GNPAT, GPX4, HES7, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43,
毛病パネル
IFT52, IFT74, IFT80, IFT81, IMPAD1, INPPL1, INTU, KIAA0586, KIAA0753, LBR, LFNG, LRP5,
Invitae Perinatal Lethal Skeletal Dysplasia MBTPS2, MESP2, NEK1, P3H1, PAM16, PEX5, PEX7, PPIB, RIPPLY2, SLC26A2, SLC35D1, SOX9,
and Skeletal Ciliopathies Panel
TBX6, TCTEX1D2, TMEM38B, TRAF3IP1, TRIP11, TRIP4, TRPV4, TTC21B, WDR19, WDR34,
WDR35, WDR60, WNT1, WNT3

35

55002

AARS, AARS2, ABAT, ABCA1, ABCD1, ABCD4, ABHD5, ACADS, ACBD5, ACER3, ACO2, ACOX1,
ACP5, ACSF3, ACTA2, ACTB, ACY1, ADAR, ADGRG1, ADK, ADNP, ADSL, AGA, AHDC1, AHI1,
AIFM1, AIMP1, AIMP2, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALG12, ALG13, ALG2, ALG6,
ALG9, AMACR, AMPD2, AMT, ANK3, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2,APOPT1, ARCN1, ARFGEF2, ARHGAP31, ARHGEF9, ARNT2, ARSA, ARX, ASL, ASNS, ASPA,
ASS1, ASXL1, ASXL2, ATP13A2, ATP5A1, ATP6AP2, ATP6V1A, ATP7A, ATP7B, ATP8A2, ATPAF2,
ATRN, ATRX, AUH, B3GALNT2, B4GALNT1, BCAP31, BCAT2, BCKDHA, BCKDHB, BCL11B, BCS1L,
BICD2, BMP4, BOLA3, BPTF, BRAT1, BTD, C12ORF57, C12ORF65, C19ORF12, C2CD3, CACNA1A,
CACNA1E, CARS2, CBS, CC2D2A, CCDC88A, CDC42, CDKL5, CEP290, CHMP1A, CLCN2, CLCN4,
CLCN7, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNNM2, CNOT1, CNTNAP1,
CNTNAP2, COA7, COASY, COG7, COL18A1, COL3A1, COL4A1, COL4A2, COLGALT1, COQ2,
COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX7B, COX8A,CPLANE1, CPLX1, CPS1, CRAT, CREBBP, CRIPT, CRLF1, CSF1R, CSPP1, CTBP1, CTC1, CTDP1,
CTNS, CTSA, CTSD, CUL4B, CYB5R3, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1,
DARS, DARS2, DBT, DCAF17, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEGS1,
DGUOK, DHCR24, DHFR, DHX37, DLD, DLL4, DMXL2, DNM1L, DNM2, DOCK6, DOCK7, DOLK,DONSON, DPAGT1, DPM1, DPM2, DPM3, DPYS, DYRK1A, EARS2, EDNRB, EHMT1, EIF2AK1,
EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ENTPD1, EOGT, EPG5,
EPRS, ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXOSC2, EXOSC3,EXOSC8, EXOSC9, FA2H, FAM126A, FAR1, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGFRL1, FH,
FIG4, FKRP, FKTN, FLVCR2, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, FUK, GAA, GABBR2,GABRA1, GABRB1, GABRB2, GABRB3, GALC, GALT, GAN, GATAD2B, GCDH, GDAP1, GFAP,
GFM1, GFM2, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLRX5, GLUL, GLYCTK, GM2A, GMNN,
GNAO1, GNS, GOT2, GPHN, GRIN1, GRM7, GTF2H5, GTPBP2, HACE1, HCN1, HEPACAM, HERC1,HEXA, HEXB, HIBCH, HIKESHI, HK1, HLCS, HMGCL, HNRNPU, HSD17B10, HSD17B4, HSPD1,
IARS, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INPP5E, IREB2, ISCA1, ISCA2, ITPA, ITPR1,
IVD, JAM3, KARS, KAT6B, KATNB1, KCNJ10, KCNJ2, KCNMA1, KCNT1, KCTD7, KDM1A, KIAA0556,
KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KLHL7, KMT2E, L2HGDH, LAGE3, LAMA1, LAMA2,
LAMB1, LARGE1, LARS2, LETM1, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MAG, MAGEL2,
Invitae白質ジストロフィーと遺伝性白質脳症 MAN2B1, MANBA, MARS2, MAST1, MAT1A, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MED17,
パネル
小児
MED25, MEF2C, MFSD2A, MFSD8, MGP, MICU1, MKS1, MLC1, MLYCD, MMACHC, MMADHC,
遺伝学
MOCS1, MOCS2, MOGS, MORC2, MPLKIP, MPV17, MPZ, MRPL12, MRPL44, MRPS16, MRPS22,
Invitae Leukodystrophy and Genetic
Leukoencephalopathy Panel
MRPS34, MSTO1, MTFMT, MTHFR, MTHFS, MTO1, MTOR, MTR, MTRR, MUT, NACC1, NADK2,
NAGA, NAGLU, NAGS, NANS, NARS2, NAXD, NAXE, NDRG1, NDUFA1, NDUFA10, NDUFA11,
NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3,
NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1,NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NFE2L2,
NFU1, NGLY1, NKX6-2, NOTCH1, NPC1, NPC2, NPHP1, NRXN1, NSUN3, NT5C2, NTRK2, NUBPL,NUP62, OAT, OCRL, OPA1, OPA3, OSGEP, OTC, PACS1, PAFAH1B1, PAH, PANK2, PARS2, PAX1,
PC, PCCA, PCCB, PCDH12, PCGF2, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PET100, PEX1, PEX10,
PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1,
PGK1, PHGDH, PHYH, PIGA, PIGB, PIGG, PIGL, PIGM, PIGN, PIGP, PIGQ, PIGT, PIGU, PIGV,PIK3C2A, PIK3R2, PLA2G6, PLAA, PLEKHG2, PLP1, PMM2, PMP22, PNKP, PNPT1, POLG, POLG2,
POLR1A, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PPP1R15B, PPP2R1A,
PPP3CA, PPT1, PRF1, PRKDC, PRODH, PROSC, PRPS1, PRUNE1, PSAP, PSAT1, PSPH, PTEN,
PTPN23, PURA, PUS3, PYCR2, QARS, QRSL1, RAB11B, RAB3GAP1, RAB3GAP2, RARS, RARS2,
RBPJ, REPS1, RERE, RHOBTB2, RIN2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,
RPGRIP1L, RPIA, RPS6KC1, RRM2B, RTTN, RXYLT1, SAMD9L, SAMHD1, SCN3A, SCO1, SCO2,
SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SETBP1, SGSH, SH3TC2, SHOC2, SHPK,SLC12A2, SLC12A5, SLC12A6, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2,
SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC25A4, SLC25A42,
SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A2, SLC39A14, SLC39A8, SLC46A1, SLC6A19,
SLC6A8, SLC6A9, SLC9A1, SLC9A6, SMC1A, SNAP29, SNIP1, SNORD118, SNRPB, SNX14, SOD1,
SON, SOX10, SOX2, SPART, SPAST, SPATA5, SPG11, SPG7, SPTAN1, SQSTM1, SRD5A3, SSR4,
ST3GAL5, STAG2, STAMBP, STAT1, STAT2, STN1, STRADA, STX11, STXBP1, STXBP2, SUCLA2,SUCLG1, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, TACO1, TAF2, TANGO2, TARS2, TBC1D24,
TBCD, TBCE, TBCK, TBX1, TCF4, TCTN2, TIMM50, TIMMDC1, TM4SF20, TMEM106B, TMEM126B,
TMEM165, TMEM216, TMEM67, TMEM70, TMTC3, TOE1, TP53RK, TPI1, TPK1, TRAPPC11,
TRAPPC9, TREX1, TRMT10A, TRMT5, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2A,
TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TWNK, TXN2, TYMP, UBA5, UBE2A, UBE3A, UFM1,
UNC13D, UPB1, USP7, VARS2, VPS11, VPS13D, VPS33A, WARS2, WDR45, WDR73, WHSC1,
WWOX, YARS, YME1L1, ZEB2, ZFYVE26, ZIC1, ZNF335

4111

小児
遺伝学

Invitaeジュベール症候群およびMeckelGruber症候群パネル
Invitae Joubert and Meckel-Gruber
Syndromes Panel

AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1,
INPP5E, KIAA0586, KIF7, MKS1, MRE11, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1,
TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

36

4101

小児
遺伝学

Invitae原発性線毛機能不全パネル
Invitae Primary Ciliary Dyskinesia Panel

AK7, ARMC4, C11ORF70, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO,
CEP164, CFAP298, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11,
DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, LRRC56, LRRC6,MCIDAS, NOTCH2, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

4163

小児
遺伝学

Invitae Cardio-Facio-Cutaneous Syndrome
Panel

BRAF, KRAS, MAP2K1, MAP2K2, SHOC2, SOS1

4165

小児
遺伝学

Invitaeレジウス症候群検査
Invitae Legius Syndrome Test

SPRED1

1708

小児
遺伝学

Invitae神経線維腫症1型検査
Invitae Neurofibromatosis Type 1 Test

NF1

4714

小児
遺伝学

Invitae嚢胞性線維症検査
Invitae Cystic Fibrosis Test

CFTR

4721

小児
遺伝学

InvitaeATR-X症候群検査
Invitae Alpha Thalassemia X-linked
Intellectual Disability Test

ATRX

4741

小児
遺伝学

InvitaeBaraitser-冬のCerebrofrontofacial症候
群テスト
Invitae Baraitser-Winter Cerebrofrontofacial
Syndrome Test

ACTB, ACTG1

4725

小児
遺伝学

Invitaeカーペンター症候群パネル
Invitae Carpenter Syndrome Panel

MEGF8, RAB23

4738

小児
遺伝学

Invitaeコフィン・ローリー症候群検査
Invitae Coffin-Lowry Syndrome Test

RPS6KA3

4737

小児
遺伝学

Invitaeコーエン症候群検査
Invitae Cohen Syndrome Test

VPS13B

4727

小児
遺伝学

Invitaeコルネリア・デランゲ症候群
および関連障害パネル
Invitae Cornelia de Lange Syndrome andRelated Disorders Panel

ADNP, AFF4, ANKRD11, ARID1A, ARID1B, BRD4, CREBBP, DPF2, EP300, ESCO2, HDAC8, KMT2A,
MED13L, NIPBL, PHF6, PHIP, RAD21, SETD5, SMARCA2, SMARCA4, SMARCB1, SMARCE1,
SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, ZMYND11

4303

小児
遺伝学

Invitae顔面異骨症および前鼻異形成パネル
Invitae Facial Dysostosis and Frontonasal
Dysplasia Panel

ALX1, ALX3, ALX4, CHD7, DHODH, EDN1, EDNRA, EFNB1, EFTUD2, EVC, EVC2, GATA1, GNAI3,
IRX5, PDE4D, PLCB4, POLR1A, POLR1C, POLR1D, PRKAR1A, RPL11, RPL5, RPS28, SF3B4,
TCOF1, TSR2, TWIST1, ZSWIM6

4736

小児
遺伝学

Invitae低ゴナドトロピン性性腺機能低下症パネルInvitae Hypogonadotropic Hypogonadism
Panel

ANOS1, AXL, CCDC141, CHD4, CHD7, CYP19A1, DHCR7, DUSP6, FEZF1, FGF17, FGF8, FGFR1,
FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IGSF10, IL17RD, KISS1, KISS1R, KLB, LEP,
LEPR, LHB, LMNA, NR0B1, NSMF, PCSK1, PLXNA1, POLR3B, PROK2, PROKR2, PROP1, RELN,
RNF216, SEMA3A, SOX10, SOX2, SPRY4, SRA1, SRY, TAC3, TACR3, WDR11

4747

小児
遺伝学

InvitaeKBG症候群検査
Invitae KBG Syndrome Test

ANKRD11

4213

小児
遺伝学

InvitaeOculo-Facio-Cardio-Dental Syndrome
Test

BCOR

37

4735

小児
遺伝学

Invitae vanderWoude症候群パネル
Invitae van der Woude Syndrome Panel

GRHL3, IRF6

5021

小児
遺伝学

Invitae外胚葉異形成症（歯の無形成の有無を問わない）パネル
Invitae Ectodermal Dysplasia with or without
Tooth Agenesis Panel

ANTXR1, APCDD1, ATP7A, AXIN2, BCS1L, BMP4, CDH3, CDSN, CLDN1, CTSC, DSG4, DSP,
EDA, EDAR, EDARADD, EGFR, ERCC2, ERCC3, ERCC8, GJA1, GJB2, GJB6, GRHL2, GTF2E2,
GTF2H5, HOXC13, HR, IRF6, JUP, KANK2, KDF1, KREMEN1, KRT14, KRT16, KRT17, KRT25,
KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT83, KRT85, LIPH, LPAR6, LRP6, LSS, LTBP3,
MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, PAX9, PKP1, POC1A, PORCN, PTH1R,
RIN2, RNF113A, RPL21, SMOC2, SNRPE, SOX18, SPINK5, TFAP2B, TP63, TRPS1, TRPV3,
TSPEAR, WNT10A, WNT10B

4304

小児
遺伝学

Invitae低色素沈着パネル
Invitae Hypopigmentation Panel

ACD, AP3B1, AP3D1, BLOC1S3, BLOC1S6, C10ORF11, CLCN7, CTC1, DKC1, DTNBP1, EDN3,EDNRB, EPG5, FRMD7, GNAI3, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, LYST,
MITF, MLPH, MYO5A, NHP2, NOP10, OCA2, PARN, PAX3, RAB27A, RET, RTEL1, SLC24A5,
SLC38A8, SLC45A2, SNAI2, SOX10, TERC, TERT, TINF2, TYR, TYRP1, USB1, WRAP53

434348

小児
遺伝学

Invitae眼皮膚白皮症パネル
Invitae Oculocutaneous Albinism Panel

AP3B1, AP3D1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, FRMD7, GPR143, HPS1, HPS3,
HPS4, HPS5, HPS6, LYST, MLPH, MYO5A, OCA2, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR,
TYRP1434351

小児
遺伝学

Invitae色素性乾皮症パネル
Invitae Xeroderma Pigmentosum Panel

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

4305

小児
遺伝学

Invitae色覚異常パネル
Invitae Achromatopsia Panel

ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP

5132

小児
遺伝学

Invitae白内障パネル
Invitae Cataracts Panel

ABCA3, ABCB6, ABHD12, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BEST1, BFSP1,
BFSP2, CHMP4B, CLN3, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB,CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1,
CYP27A1, CYP51A1, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXC1,
FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4,
JAM3, LEMD2, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3,
P3H2, PAX6, PEX10, PEX11B, PEX16, PEX2, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1,RAB3GAP2, RDH11, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12,
SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WDR87, WFS1, WRN,
XYLT2

4301

小児
遺伝学

Invitae先天性静止夜盲目パネル
Invitae Congenital Stationary Night Blindness
Panel

CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRM6,
GUCY2D, LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1

4302

小児
遺伝学

Invitae角膜ジストロフィパネル
Invitae Corneal Dystrophies PanelCHRDL1, CHST6, COL17A1, COL5A1, COL8A2, CYP4V2, DCN, FOXE3, GJA8, GRHL2, GSN,
KERA, KRT12, KRT3, LCAT, LOXHD1, MAF, MIR184, NLRP1, OVOL2, PAX6, PIKFYVE, PITX2,
PRDM5, PXDN, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1, ZEB1, ZNF143, ZNF469

55015

小児
遺伝学

Invitae緑内障パネル
Invitae Glaucoma Panel

ASB10, ATOH7, BMP4, COL4A1, COL8A2, CYP1B1, EXO5, FOXC1, FOXE3, LMX1B, LTBP2, MAF,
MFRP, MYOC, OPTN, PAX6, PIK3R1, PITX2, PITX3, PRPF8, PRSS56, PXDN, SH3PXD2B, SIX6,SLC4A4, TEK, WDR36

434345

小児
遺伝学

InvitaeMacularジストロフィーパネル
Invitae Macular Dystrophy Panel

ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CFI, CHST6, CNGB3, CRB1, CRX, CTNNA1, DRAM2,
EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1,
PRDM13, PROM1, PRPH2, RAX2, RBP3, RBP4, RDH12, RDH5, RLBP1, RP1L1, RPGRIP1, RS1,
SIX6, TIMP3

38

72100

小児
遺伝学

Invitae継承網膜障害パネル
Invitae Inherited Retinal Disorders Panel

ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1,
ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9,
ARSG, ASRGL1, ATF6, ATOH7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7,
BBS9, BEST1, C10ORF11, C12ORF65, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4,
CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP250, CEP290, CEP41,
CEP78, CEP83, CERKL, CFAP410, CHM, CIB2, CISD2, CLCC1, CLN2 (TPP1), CLN3, CLN5, CLN6,
CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2,
COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRX, CSPP1, CTNNA1, CTSD,CWC27, CYP4V2, DHDDS, DHX32, DHX38, DNAJC17, DRAM2, DSCAML1, DTHD1, EFEMP1,ELOVL4, EMC1, ERCC6, EXOSC2, EYS, FAM161A, FBLN5, FLVCR1, FRMD7, FSCN2, FZD4, GDF6,
GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRM6, GRN, GUCA1A, GUCA1B,
GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43,
IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13,
KCNV2, KIAA0586, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LYST,LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MPDZ, MTPAP,
MTTP, MYO7A, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3,
NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OR2W3, OTX2, P3H2, PAX2, PAX6,
PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1,
PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7,
PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13,
PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP1, RBP3,
RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1,
ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGR (ORF15), RPGRIP1, RPGRIP1L, RS1,
RTN4IP1, SAG, SAMD11, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC45A2,
SLC7A14, SNRNP200, SPATA7, SPP2, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMED7,
TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS,
TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB,
TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B,
WDPCP, WDR19, WDR34, WFS1, WHRN, ZNF408, ZNF423, ZNF513

4201

小児
遺伝学

Invitae先天性心疾患および内臓錯位パネル
Invitae Congenital Heart Defects andHeterotaxy Panel

ACTC1, ACVR2B, ALMS1, ANKS6, ARMC4, BBS10, BCOR, BRAF, CBL, CCDC103, CCDC114,
CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CEP290, CFAP298, CFAP53, CHD7, DNAAF1,
DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1,
DRC1, ELN, FOXH1, GAS8, GATA4, GDF1, GJA1, GPC3, HRAS, INVS, JAG1, KRAS, LEFTY2,
LRRC6, MAP2K1, MAP2K2, MCIDAS, MED13L, MEIS2, MKS1, NEK8, NF1, NKX2-5, NKX2-6, NME8,NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NSD1, OFD1, PTPN11, RAF1, RIT1, RPGR,
RSPH1, RSPH3, RSPH4A, RSPH9, SHOC2, SOS1, SPAG1, TBX1, TBX5, TTC8, ZIC3, ZMYND10,ZNF423

4412

小児
遺伝学

Invitaeアンドロゲン不応症パネル
Invitae Androgen Insensitivity Panel

AR, SRD5A2

4413

小児
遺伝学

Invitae女性の性発達障害検査
Invitae Disorders of Female Sex
Development Test

SRY

55007

小児
遺伝学

Invitae性発達障害パネル
Invitae Disorders of Sex Development Panel

AMH, AMHR2, ANOS1, AR, ARX, ATRX, B3GLCT, CBX2, CCNQ, CHD7, CKAP2L, CYB5A, CYP11A1,
CYP11B1, CYP17A1, CYP19A1, DHH, DMRT1, ESR2, FRAS1, FREM2, H6PD, HHAT, HOXA13,
HSD17B3, HSD3B2, KL, LHCGR, LHX3, LHX4, MAMLD1, MAP3K1, NR0B1, NR5A1, POR, PROP1,
PSMC3IP, RSPO1, SOX9, SPECC1L, SRD5A2, SRY, STAR, TNK2, TOE1, TSPYL1, TWIST2, UBR1,
WNT4, WNT9B, WT1, WWOX, ZFPM2434342

小児
遺伝学

Invitaeアダムズ・オリバー症候群パネル
Invitae Adams-Oliver Syndrome Panel

ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

4726

小児
遺伝学

Invitae ARSE関連の点状軟骨異形成症検査
Invitae ARSE-Related Chondrodysplasia
Punctata Test

ARSE

4712

小児
遺伝学

Invitae屈曲肢異形成症検査
Invitae Campomelic Dysplasia Test

SOX9

39

4423

小児
遺伝学

Invitae頭蓋骨癒合症パネル
Invitae Craniosynostosis Panel

ALPL, ASXL1, B3GAT3, CD96, CDC45, CDT1, COLEC11, CYP26B1, EFNA4, EFNB1, ERF, ESCO2,
FBN1, FGF9, FGFR1, FGFR2, FGFR3, FREM1, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IL11RA,
KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, P4HB, PHEX, POR, PPP3CA,
RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIX2, SKI, SLC25A24, SMAD2, SMAD3,
SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1,TWIST1, WDR19, WDR35, ZEB2, ZIC1

4613

小児
遺伝学

Invitaeエリス・ファンクレフェルトおよびWeyers四肢顔面骨形成不全症パネル
Invitae Ellis van Creveld and Weyers
Acrofacial Dysostosis Panel

EVC, EVC2

4614

Invitae遺伝性多発性骨軟骨腫パネル
小児
Invitae Hereditary Multiple Osteochondromas
遺伝学
Panel

EXT1, EXT2

72039

小児
遺伝学

Invitae低リン血症パネル
Invitae Hypophosphatemia Panel

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, GNAS,
OCRL, PHEX, SLC34A1, SLC34A3, VDR

55010

小児
遺伝学

ACVR1, ADAMTS10, ADAMTS17, AFF4, AHI1, ANKRD11, ARHGAP31, ARID1A, ARID1B, ARL13B,
ARL6, B3GLCT, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9,
BMP2, BMP4, BMPR1B, BTRC, C2CD3, CACNA1C, CC2D2A, CCNQ, CDH3, CEP104, CEP120,
CEP290, CEP41, CHSY1, CHUK, CKAP2L, CPLANE1, CREBBP, CSPP1, DDX59, DHCR7, DHODH,
DLL4, DLX5, DLX6, DOCK6, DPF2, DVL1, DVL3, DYNC1I1, EOGT, EP300, ESCO2, EVC, EVC2,
FAT1, FBLN1, FBN1, FBXW4, FGF10, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FMN1, FRAS1,
FREM2, FZD2, GDF5, GDF6, GJA1, GLI2, GLI3, GNAS, GSC, HDAC4, HDAC8, HOXA13, HOXD13,
Invitae指趾の奇形パネル
IFT57, IHH, INPP5E, KDM6A, KIAA0586, KIF7, KMT2A, KMT2D, LMBR1, LRP4, LTBP2, LTBP3,
Invitae Limb and Digital Malformations Panel
MAP3K20, MEGF8, MGP, MKKS, MKS1, MRE11, MYCN, NECTIN1, NECTIN4, NIPBL, NOG,
NOTCH1, NPHP1, NPHP3, NSDHL, NXN, OFD1, PDE3A, PDE4D, PDE6D, PGM3, PHF6, PIGV,PITX1, POLR1A, PORCN, PRKAR1A, PRMT7, PTDSS1, PTHLH, RAB23, RAD21, RBM8A, RBPJ,RECQL4, ROR2, RPGRIP1L, SALL1, SALL4, SC5D, SDCCAG8, SF3B4, SMAD4, SMARCA2,SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SOST, SOX11, SOX9, TBX15, TBX3,
TBX5, TCTN1, TCTN2, TCTN3, TGDS, THPO, TMEM107, TMEM138, TMEM216, TMEM231,
TMEM237, TMEM67, TP63, TRIM32, TRPS1, TRPV4, TTC21B, TTC8, VAC14, WDPCP, WNT10B,
WNT3, WNT5A, WNT7A, ZNF423, ZSWIM6

4307

小児
遺伝学

Invitae小頭症原発性小人症およびセッケル症候群パネル
Invitae Microcephalic Primordial Dwarfism
and Seckel Syndrome Panel

ATR, ATRIP, CDC45, CDC6, CDK5RAP2, CDT1, CENPJ, CEP135, CEP152, CEP63, CEP97, CRIPT,
DNA2, DNMT3A, DONSON, GMNN, LARP7, LIG4, MCM5, MCPH1, NIN, NSMCE2, ORC1, ORC4,
ORC6, PCNT, PLK4, POC1A, RBBP8, RNU4ATAC, RTTN, SRCAP, TRAIP, TUBGCP4, TUBGCP6,
UBE3B, WDR4, XRCC4434350

小児
遺伝学

Invitae脊椎肋骨異骨症パネル
Invitae Spondylocostal Dysostosis Panel

DLL1, DLL3, DMRT2, HES7, LFNG, MESP2, RIPPLY2, TBX6

4617

小児
遺伝学

Invitae毛髪-鼻-指節症候群パネル
Invitae Trichorhinophalangeal Syndrome
Panel

EXT1, TRPS1

72038

小児
遺伝学

InvitaeX連鎖性低リン血症性検査
Invitae X-Linked Hypophosphatemia Test

PHEX

40

4306

小児
遺伝学

Invitae界面活性剤代謝パネル
Invitae Surfactant Metabolism Panel

ABCA3, COPA, CSF2RA, CSF2RB, DKC1, FLNA, FOXF1, GATA2, ITGA3, MARS, NKX2-1, NOTCH2,
PARN, RTEL1, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, TMEM173

55014

小児
遺伝学

Invitaeアッシャー症候群パネル
Invitae Usher Syndrome Panel

ABHD12, ADGRV1, ARSG, CDH23, CEP250, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, PEX1,
PEX6, USH1C, USH1G, USH2A, WHRN

434341

小児
遺伝学

腎臓および尿路のInvitae先天性異常（CAKUT）パネル
Invitae Congenital Anomalies of Kidney andUrinary Tract (CAKUT) Panel

ACE, AGT, AGTR1, BICC1, BNC2, CRKL, DCHS1, DSTYK, EYA1, FAT4, FGF20, FOXC1, FRAS1,
FREM1, FREM2, GATA3, GLI3, GREB1L, HNF1B, HOXA13, HPSE2, ITGA8, LRP4, NRIP1, PAX2,
PBX1, REN, RET, ROBO2, SALL1, SIX1, SIX2, SIX5, SLIT2, SOX17, TBX18, UMOD, VIPAS39,
VPS33B, WNT4, WT1

55008

小児
遺伝学

Invitae嚢胞性腎疾患パネル
Invitae Cystic Kidney Disease Panel

ALG8, ANKS6, BICC1, CEP164, CEP290, CEP83, CEP89, COL4A1, CRB2, DCDC2, DICER1,DNAJB11, DZIP1L, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MAPKBP1, NEK8,NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD2, PKHD1, PRKCSH, RPGRIP1L, SDCCAG8,
SEC61A1, SEC63, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423

小児
434347
遺伝学

ACTN4, AMN, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, CLCN5, COL4A3, COL4A4,
Invitaeネフローゼ症候群および巣状分節性糸COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, DHTKD1, EMP2, FN1, INF2, ITGA3, ITGB4,球体硬化症(FSGS)パネル
KANK1, KANK2, KANK4, LAGE3, LAMA5, LAMB2, LMX1B, MAGI2, MYO1E, NPHS1, NPHS2,
Invitae Nephrotic Syndrome and Focal
NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OSGEP, PAX2, PDSS2, PLCE1,
Segmental Glomerulosclerosis (FSGS) PanelPODXL, PTPRO, SGPL1, SMARCAL1, TP53RK, TPRKB, TRPC6, WDR73, WT1, XPO5

75000

小児
遺伝学

Invitae進行性腎疾患パネル
Invitae Progressive Renal Disease Panel

ACE, ACTB, ACTN4, ADAMTS13, AGT, AGTR1, AHI1, ALG8, ALG9, ALMS1, AMN, ANKS6, ANLN,
APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL6, ATP6V0A4, ATP6V1B1, AVP, AVPR2, BBIP1,
BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BSND, CA2, CACNA1D, CACNA1H,
CASR, CD151, CD2AP, CDKN1C, CEP164, CEP19, CEP290, CEP83, CEP89, CFHR5, CHRM3,
CLCN5, CLCNKB, CLDN16, CLDN19, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6,
COQ8B, CPLANE1, CRB2, CTNS, CUBN, CYP24A1, DCDC2, DGKE, DHCR7, DICER1, DLC1,DNAJB11, DZIP1L, EGF, EMP2, EYA1, FAM20A, FAN1, FAT1, FN1, FOXI1, FOXP3, FREM1, GANAB,GATA3, GATM, GLA, GLIS2, GRHPR, GSN, HNF1A, HNF1B, HPRT1, HPSE2, HSD11B2, IFT122,
IFT140, IFT172, IFT27, IFT43, INF2, INVS, IQCB1, ITGA3, ITGA6, ITGB4, JAG1, KANK2, KANK4,
KAT6B, KCNJ1, KCNJ10, LAMA5, LAMB2, LCAT, LDHA, LMX1B, LPIN1, LRP4, LRP5, LYZ, LZTFL1,
MAGED2, MAGI2, MAPKBP1, MEFV, MKKS, MYH9, MYO1E, NEK8, NOTCH2, NPHP1, NPHP3,
NPHP4, NPHS1, NPHS2, NSDHL, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OFD1,
PAX2, PBX1, PDSS2, PHEX, PKD2, PKHD1, PLCE1, PODXL, PREPL, PTPRO, REN, RMND1,
RPGRIP1L, SALL1, SALL4, SARS2, SDCCAG8, SEC61A1, SEMA3E, SGPL1, SIX1, SIX5, SLC12A1,
SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC37A4, SLC41A1, SLC4A1, SLC4A4, SLC7A7,SMARCAL1, SYNPO, TBC1D8B, TMEM67, TNS2, TP63, TRIM32, TRPC6, TSC1, TSC2, TTC21B,
TTC8, UMOD, WDPCP, WDR19, WDR73, WT1, XPNPEP3, XPO5, ZNF423

4308

小児
遺伝学

Invitae腎尿細管性障害パネル
Invitae Renal Tubular Disorders Panel

ACE, AGT, AGTR1, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CASR, CLCNKB, CLDN16,
CLDN19, CNNM2, CUL3, EGF, FOXI1, FXYD2, GATM, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3,
MAGED2, NR3C2, OCRL, REN, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC34A1,
SLC4A1, SLC4A4, TRPM6, WNK1, WNK4

4167

小児
遺伝学

Invitae神経線維腫症2型検査
Invitae Neurofibromatosis Type 2 Test

NF2

41

4422

55004

55009

4732

小児
遺伝学

小児
遺伝学

小児
遺伝学

小児
遺伝学

Invitae脳海綿状血管腫パネル
Invitae Cerebral Cavernous Malformations
Panel

CCM2, KRIT1, PDCD10

ABAT, ABCD1, ACADM, ACADVL, ACAT1, ACBD5, ACOX1, ACTB, ADAR, ADCY5, ADD3, ADNP,ADSL, AFG3L2, AGAP1, AHDC1, AHI1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13,
ALG3, ALS2, AMACR, AMPD2, AMT, ANO3, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1,
ARHGEF9, ARL6IP1, ARSA, ARX, ASL, ASNS, ASPA, ASS1, ASXL1, ATAD1, ATL1, ATM, ATP13A2,
ATP1A3, ATP7A, ATP7B, ATP8A2, ATRX, AUH, AUTS2, B4GALNT1, BCAP31, BCKDHA, BCKDHB,
BICD2, BSCL2, BTD, C12ORF65, C19ORF12, CACNA1A, CACNA1G, CAMTA1, CAPN1, CASK, CBS,
CCDC88C, CCT5, CDKL5, CEP290, CHD8, CHRNA1, CIZ1, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8,
CLTC, COASY, COL4A1, COL4A2, COL6A3, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, CPS1,
CPT1C, CREBBP, CTBP1, CTNNB1, CTSD, CYP27A1, CYP2U1, CYP7B1, DARS, DARS2, DBH,
DBT, DCAF17, DDC, DDHD1, DDHD2, DDX3X, DGKZ, DHDDS, DHFR, DLAT, DLD, DMD, DNAJC12,
DNM2, DPAGT1, DYNC1H1, DYRK1A, EEF2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5,ELOVL4, ELOVL5, ENTPD1, EPHA4, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH,
ETHE1, EXOSC3, FA2H, FAM126A, FARS2, FAT2, FGF12, FGF14, FH, FOLR1, FOXG1, FRRS1L,
FTL, FUCA1, GABRA2, GAD1, GALC, GAMT, GATM, GBA, GBA2, GCDH, GCH1, GFAP, GJC2,
GLB1, GLDC, GLRA1, GLRB, GM2A, GNAL, GNAO1, GNB1, GNS, GPHN, GPR88, GRID2, GRIN1,
GRIN2B, GRM1, HACE1, HESX1, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HPCA, HPRT1,
HSD17B10, HSD17B4, HSPD1, IBA57, IFIH1, IQSEC2, IREB2, ITPA, ITPR1, KANK1, KAT6A, KCNA2,
Invitae脳性麻痺スペクトラム障害パネル
KCNC3, KCNJ6, KCNMA1, KCNQ2, KCNT1, KCTD17, KCTD7, KDM5C, KIDINS220, KIF1A, KIF1C,
Invitae Cerebral Palsy Spectrum Disorders KIF5A, KMT2A, KMT2B, KMT2C, L1CAM, L2HGDH, LAMA2, LIAS, LMBRD1, MAG, MAOA, MAP2K1,
Panel
MARS2, MAST1, MCCC1, MCCC2, MCEE, MECP2, MECR, MFSD8, MICU1, MLYCD, MMAA, MMAB,
MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MPC1, MTHFR, MTOR, MTPAP, MTR, MTRR,
MTTP, MUT, NAA10, NAA35, NAGLU, NAGS, NBAS, NGLY1, NIPA1, NKX2-1, NPC1, NPC2, NPHP1,
NT5C2, NUS1, OTC, PAFAH1B1, PAH, PAK3, PALM, PANK2, PCBD1, PCCA, PCCB, PCDH12,
PDE10A, PDE2A, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B,
PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PHIP, PIGN,PIGT, PLA2G6, PLD3, PLP1, PLXNA2, PMM2, PNKD, PNP, PNPLA6, PNPO, POLG, POLR3A, PPT1,PRKRA, PROSC, PRRT2, PRUNE1, PSAT1, PSPH, PTPN11, PTS, PURA, QDPR, RAB3GAP1,RAB3GAP2, RANBP2, REEP1, REEP2, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C,RNASET2, RTN2, SACS, SAMHD1, SATB2, SCN1A, SCN2A, SCN3A, SCN8A, SETD5, SGCE, SGSH,
SHH, SIL1, SIX3, SLC16A2, SLC17A5, SLC18A2, SLC19A3, SLC1A4, SLC25A15, SLC25A22,
SLC2A1, SLC30A10, SLC33A1, SLC39A14, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SON, SPART,SPAST, SPATA5, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, ST3GAL5, STAMBP,STUB1, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, SYNGAP1, TAF1, TANGO2, TBC1D24, TBCK,TBL1XR1, TCF4, TECPR2, TFG, TGIF1, TGM6, TH, THAP1, TMEM240, TMEM67, TOR1A, TREX1,
TRPC3, TSEN54, TTBK2, TTPA, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, UBE3A, UCHL1,
VAC14, VAMP1, VPS13A, VPS13D, VPS37A, WARS2, WASHC5, WDR45, WDR62, ZBTB18, ZC4H2,
ZEB2, ZFR, ZFYVE26, ZIC1, ZIC2, ZIC4

Inviate包括的な難聴パネル
Invitae Comprehensive Deafness Panel

ABHD12, ABHD5, ACOX1, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANLN, ARSB, ARSG,
ATP1A3, ATP2B2, ATP6V1B1, BCAP31, BCS1L, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151,
CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5,
CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6,
COL9A1, COL9A2, COL9A3, CRYM, DBH, DCAF17, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1,
DIAPH3, DMXL2, DNMT1, DSPP, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPS8, EPS8L2,
ESPN, ESRRB, EYA1, EYA4, FAM65B, FGF3, FGFR3, FOXC1, FOXI1, GALNS, GATA3, GDF6,
GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GLB1, GNS, GPSM2, GRHL2, GRXCR1, GRXCR2, GUSB,HARS, HARS2, HGF, HGSNAT, HOMER2, HSD17B4, HYAL1, IDS, IDUA, ILDR1, JAG1, KARS,KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LOXL3, LRP2,
LRTOMT, MAN2B1, MARVELD2, MCM2, MEOX1, MET, MIR96, MITF, MPZ, MSRB3, MYH14,
MYH7B, MYH9, MYO15A, MYO18B, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NDRG1, NF2,
NLRP3, NOG, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PCGF2,PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3,
PEX5, PEX6, PEX7, PHYH, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RAI1,
RDX, RMND1, ROR1, RPS6KA3, S1PR2, SCP2, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX5,SLC12A2, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC44A4, SLC4A11, SLC52A2,
SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A,
TJP2, TMC1, TMEM126A, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TRRAP, TSPEAR,TUBB4B, TWNK, UBR1, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN, ZNF469

Invitae骨形成不全症および骨脆弱性パネル
Invitae Osteogenesis Imperfecta and Bone
Fragility Panel

ALPL, ANO5, ASCC1, B3GAT3, B4GALT7, BMP1, CA2, CLCN5, CLCN7, COL1A1, COL1A2,
CREB3L1, CRTAP, CTNS, CTSK, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FAM46A,
FGF23, FGFR1, FKBP10, GNAS, GORAB, IFITM5, LRP5, LRRK1, MBTPS2, MESDC2, NBAS,
NOTCH2, NTRK1, OCRL, OSTM1, P3H1, P4HB, PHEX, PLOD2, PLS3, PPIB, SEC24D, SERPINF1,SERPINH1, SFRP4, SGMS2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SNX10, SP7, SPARC, SUCO,TAPT1, TCIRG1, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP4, VDR, WNT1, WNT3A,
XYLT2

42

89100

小児
遺伝学

Invitae骨系統疾患パネル
Invitae Skeletal Disorders Panel

ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, AFF4, AGA, AGPS, AIFM1, ALPL, AMER1, ANKH,
ANO5, ARCN1, ARSB, ARSE, ASCC1, ASPM, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, BGN,
BMP1, BMP2, BMPER, BMPR1B, C2CD3, CA2, CANT1, CASR, CCDC8, CDC45, CDC6, CDK5RAP2,
CDKN1C, CDT1, CENPJ, CEP120, CEP135, CEP152, CEP63, CEP97, CFAP410, CHST14, CHST3,
CHUK, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1,
COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRIPT, CRTAP, CSF1R, CSGALNACT1,
CSPP1, CTNS, CTSA, CTSK, CUL7, CWC27, CYP27B1, CYP2R1, DDR2, DDRGK1, DHCR24, DIP2C,
DLL1, DLL3, DLX3, DMP1, DMRT2, DNA2, DNMT3A, DONSON, DVL1, DVL3, DYM, DYNC2H1,
DYNC2LI1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3,
FAH, FAM111A, FAM20C, FAM46A, FAR1, FAT4, FBN1, FGF23, FGF9, FGFR1, FGFR2, FGFR3,
FIG4, FKBP10, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR,
GHRHR, GHSR, GJA1, GLB1, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB,
GPC6, GPX4, GSC, GUSB, GZF1, HES7, HGSNAT, HPGD, HSPG2, HYAL1, IARS2, ICK, IDS, IDUA,IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF2, IHH,
IMPAD1, INPPL1, INTU, JAG1, KAT6B, KIAA0586, KIAA0753, KIF22, KL, KMT2A, LARP7, LBR,
LEMD3, LFNG, LIFR, LIG4, LMNA, LMX1B, LONP1, LOXL3, LRP4, LRP5, LRRK1, LTBP2, LTBP3,
MAFB, MAN2B1, MANBA, MAP3K7, MATN3, MBTPS1, MBTPS2, MCM5, MCPH1, MEOX1, MESDC2,
MESP2, MGP, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MYH3, MYO18B, NAGLU, NANS,
NBAS, NEK1, NEU1, NIN, NKX3-2, NOG, NOTCH2, NPPC, NPR2, NPR3, NSDHL, NSMCE2, NTRK1,
NXN, OBSL1, OCRL, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCGF2, PCNT,PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIK3C2A, PISD, PKDCC, PLK4, PLOD2, PLS3,
POC1A, POLR1A, POP1, POR, PPIB, PPP3CA, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11,PYCR1, RAB33B, RBBP8, RECQL4, RIPPLY2, RMRP, RNU4ATAC, ROR2, RSPO2, RSPRY1, RTTN,RUNX2, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SFRP4, SGMS2, SGSH, SH3PXD2B,
SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1,
SLCO5A1, SMAD4, SMARCAL1, SNRPB, SNX10, SOX9, SP7, SPARC, SQSTM1, SRCAP, SUCO,
SULF1, SUMF1, TAB2, TAPT1, TBCE, TBX15, TBX3, TBX5, TBX6, TBXAS1, TCIRG1, TCTEX1D2,
TCTN3, TGFB1, TMEM165, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TRAF3IP1,
TRAIP, TRAPPC2, TREM2, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TTC21B,
TUBGCP4, TUBGCP6, TYROBP, UBE3B, VAC14, VDR, VPS33A, WDR19, WDR34, WDR35, WDR4,
WDR60, WISP3, WNT1, WNT3, WNT3A, WNT5A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZNF687

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1,
ALDH18A1, ARIH1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN,
C1S, CBS, CHST14, CHST3, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1,
COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CRTAP, DCHS1, DSE, EFEMP2,
ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, HCN4, LEMD3,
LOX, LOXL3, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NOG,
NOTCH1, P3H1, PKD2, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC26A2, SLC2A10,
SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SPARC, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1,TGFBR2, UPF3B, ZNF469

434340

小児
遺伝学

Invitae結合組織疾患パネル
Invitae Connective Tissue Disorders Panel

4151

小児
遺伝学

Invitae RASopathiesおよびヌーナンスペクトラム障A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1,
害パネル
NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1,
Invitae RASopathies and Noonan Spectrum
SOS2, SPRED1, YWHAZ
Disorders Panel

5142

小児
遺伝学

InvitaeMACおよび前眼部形成異常パネル
Invitae Microphthalmia, Anophthalmia,
Coloboma (MAC) and Anterior Segment
Dysgenesis Panel

ABCB6, ADAMTS18, ALDH1A3, ALX1, ASPH, BCOR, BMP4, BMP7, C12ORF57, CDON, CHD7,
COL4A1, CPAMD8, CRYAA, CRYBA4, CYP1B1, DCDC1, ELP4, ERCC2, ERCC5, ERCC6, FAT1,
FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF6, GJA1, GRIP1, HCCS, HESX1,
HMGB3, HMX1, ITPR1, KERA, MAB21L2, MFRP, MIR204, MITF, NAA10, NDP, OCRL, OTX2, PAX2,
PAX6, PITX2, PITX3, PORCN, PRDM5, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB,RAX, RBP4, RERE, SALL2, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6,
TBC1D20, TENM3, TFAP2A, UBE3B, VAX1, VSX1, VSX2, WNT2B, YAP1, ZDBF2, ZIC2

55013

小児
遺伝学

Invitaeスティックラー症候群パネル
Invitae Stickler Syndrome Panel

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3, LRP2, VCAN

4612

小児
遺伝学

Invitae アントレー・ビクスラー症候群検査
Invitae Antley-Bixler syndrome Test

POR
43

Test Code

項目名

FVT0001

Family Variant Test

* Family Variant Testの検査対象期間は結果報告後90日間です。
* Family Variant Testは発端者の陽性遺伝子に関する検査が可能です。

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Invitaeでは、カスタマイズに対応した
フレキシビリティの高い遺伝学的パネル検査を設計し疾患領域ごとに提供しています。

★

疾患領域ごとに1サンプルあたりのシークエンス解析を単一価格で行っています。これにより、キュレーション済みシークエンスパネルを選択したり、複数のシークエンスパネルを組み合わせたり、またはサンプルごとにシークエンス
パネルをカスタマイズ（再依頼*を含む）する場合も解析対象の遺伝子が1つの疾患領域に含まれる限り、表示価格のままで解析することができます。

★

シークエンスパネルには、特に断りのない限り、1サンプルの遺伝子解析、エクソンレベルの欠損/複数解析一式が含まれます。

★

疾患領域が異なる2つの遺伝学的検査をご依頼いただいた場合は、遺伝学的検
査が2種類有効になり、サンプル費用も2アッセイ分必要となります。また、異なる2つの専門チームにより2つのレポートを作成することになります。

★

本一覧表に掲載された全キュレーション済みシークエンスパネルは、予備的証
拠及びアドオンを含め、全てそれぞれの疾患領域に帰属します。

* 再依頼とは、初回のシークエンス解析と同じ疾患領域の遺伝学的検査について、追加料金の支払いやサンプルの新規提供なしで追加のオーダーができるサービスです（レポート受領から90日以内）。本サービスにより、適切な遺伝学的検査を適切なペースでフレキシブルにオーダーすることが可能となります。
*本検査内容は新しい臨床知見、ガイドライン、専門家の意見を検討した上でInvitae社の方針で変更になる可能性があります。

詳細については、下記の連絡先までお問い合わせ下さい。

フィンガルリンク株式会社

FMC事業部〒111-0041 東京都台東区元浅草2-6-6 日産台東ビル5F

TEL 03-6802-7605

http://www.finggal-link.com/contact.html

管理番号 20240301

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