Molecular Genetics Tests Genetic Tests Specimen sample Turn Around Time Referral Price/JDs Amnio PCR for aneuploidy screening of chromosomes 13, 18, 21, X and Y, QF-PCR Amniotic fluid 2 – 3 days 120 Cardio Vascular Disease Risk Factors, 12 Mutations Profile, PCR EDTA whole blood 7 days 60 Cystic Fibrosis CFTR Gene Mutations (36 mutations), Amniotic fluid Amniotic fluid 17 days 190 Cystic Fibrosis CFTR Gene Mutations (36 mutations), Blood EDTA whole blood 7 days 90 Cystic Fibrosis CFTR Gene Mutations (36 mutations), CVS Chorionic Villus Sampling (CVS) 17 days 190 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis EDTA whole blood 18 – 20 days 150 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis Amniotic fluid 30 days 250 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis Chorionic Villus Sampling (CVS) 30 days 250 Factor II G20210A Prothrombin Gene Mutation (for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Factor V G1691A (Leiden) Gene Mutation ( for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Familial Mediterranean Fever (12 mutations) EDTA whole blood 4 days 68 Hereditary Hemochromatosis HFE Gene Mutations (H63D, S65C, C282Y), PCR EDTA whole blood 4 days 50 HLA ABC, Blood, PCR EDTA whole blood 7 days 110 HLA B27, Blood, PCR EDTA whole blood 4 days 30 HLA B5, Blood, PCR EDTA whole blood 4 days 30 HLA DR, Blood, PCR EDTA whole blood 4 days 50 Human Oncogenes, Breast Cancer genes (BRCA1, BRCA2), Gene Analysis, PCR EDTA whole blood 3 weeks 350 MTHFR C677T (for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Spinal Muscular Atrophy (SMA), Genetic Analysis EDTA whole blood 18 – 20 days 150 Spinal Muscular Atrophy (SMA), Genetic Analysis Amniotic fluid 30 days 250
short arms of some chromosomes that is of no clinical significance. These variations are known as ‘polymorphic variants’, ‘polymorphisms’ or ‘normal variants’. In a few cases, it is necessary to distinguish between such variation and a true abnormality. It may therefore be necessary to karyotype the parents or to carry out further tests on a repeat sample. On rare instances, technical limitations associated with some of the technologies used may be present. Cytogenetics Tests Karyotyping Requirements Specimen Quantity Container Maximum Transit Time Turnaround Time Referral Price Peripheral blood 2 – 4 ml Li-Heparin bottle (sterile, vacutainer, plastic) 48 hours 7 days 43 Fetal blood/Cord 0.5 – 1 ml Li-Heparin bottle (sterile, plastic) 48 hours 7 days 43 Bone marrow and unstimulated blood 2 - 5 ml Li-Heparin bottle (sterile, plastic) 24 hours 5 days 55 Amniotic Fluid 15 – 20 ml Universal container or 16 ml conical tube (sterile, plastic) 24 hours 14 days 75 Chorionic Villus Sampling 2 - 25 mg Universal container (sterile, plastic). In sterile media. 24 hours 14 days 80 Products Of Conception Variable Universal container (sterile, plastic). In sterile saline. 24 hours 14 days 80
FISH Requirements Tests Quantity Container Maximum Transit Time Average Turnaround Time Referral Price Amniotic Fluid, Blood, Chorionic Villus Sampling (CVS) Trisomy 13 [Patau Syndrome] 3 ml Amniotic Fluid in Universal container or conical tube, (sterile, plastic) Li-Heparin bottle / EDTA whole blood (sterile, plastic) CVS in media (sterile, plastic) Within 24 hours 1 - 2 working days 55 Trisomy 18 [Edward’s Syndrome] 55 Trisomy 21 [Down’s Syndrome] 55 Rapid sexing ( X and Y ) 55 Prader Willi 200 Digeorge 200 Miller Dieker 400 Trisomy 21, XY 95 Trisomy 13, 18 and 21 130 Trisomy 13, 18, 21 and XY 155 Preimplantation Genetic Diagnosis (PGD) PGD Fixated Blastomere Salinated Slide N/A Within 24 hours 50 For each embryo Bone Marrow and Unstimulated Blood BCR/ABL: t(9;22) [CML/ALL] 1 - 2 ml Li-Heparin bottle (sterile, plastic) 24 hours 2 - 3 days 70 GLI: (12q13) [CLL] 100 ATM: (11q22) [CLL] 100 p53: (17p13) [CLL] 100 DLEU: 13q14 [CLL] 100 ETO/AML: t(8;21) [AML/M2] 100 CBFB: inv(16) [AML/M4] 100 PML/RARA: t(15;17) [AML/M3] 100 TEL/AML: t(12;21) [ALL] 100