Spreadsheet: e315df72-3e98-49f9-9705-b53d855046b7
Sheet: Sheet1

Test Referenced | Entry Type | Mayo ID | Description | Reporting Description | Method | Collection Container | Temperature | Stability | [NAME] | Unit of Measure | [NAME] | Minimum Volume | Reject Due To | Reference Values | Days/Times Performed | Analytic Time | Maximum Lab Time | CPT Units | CPT Code | LOINC® Code | LOINC® Attributes | Always Performed | Orderable Separately | Performing Location
NPCMS | Test | NPCMS | Niemann-Pick Type C, Full Gene Analysis | NPC Mutation Screen | Polymerase chain reaction (PCR) amplification followed by DNA sequencing is utilized to test for the presence of a mutation in the NPC1 and NPC2 genes and  Gene Dosage Analysis by [NAME] (MLPA) FBC/80333: Cell Culture (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) |  |  |  |  |  | Forms: 1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions. 2. Molecular Genetics-Biochemical Disorders Patient Information Sheet (Supply T527) in Special Instructions 3. If not ordering electronically, submit a Molecular Genetics Request Form (Supply T245) with the specimen.   [NAME] must arrive within 96 hours of collection.   Submit only 1 of the following specimens:   Specimen Type: Whole blood Container/Tube: Preferred: Lavender top (EDTA) or yellow top (ACD) Acceptable: Any anticoagulant  [NAME]: 3 mL  Collection Instructions:	 1. Invert several times to mix blood. 2. Send specimen in original tube. Specimen Stability Information: Ambient (preferred)/Refrigerated  	 [NAME] fibroblasts Container/Tube: T-75 or T-25 flask	 [NAME]: 1 Full T-75 or 2 full T-25 flasks Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours  	 [NAME] Type: Skin biopsy Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [Supply T115]). [NAME]: 4-mm punch			 Specimen Stability Information: Refrigerated (preferred)/Ambient | Blood: 1 mL | No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory. | An interpretive report will be provided. | Thursday; 10 a.m. | 14 days | 20 days | 1 | 81479 |  |  |  |  | Rochester
NPCMS | [NAME] | VARIES | Varies |  |  |  | See instructions
NPCMS | Result | 27471 | [NAME] | [NAME] | Alphanumeric
NPCMS | Result | 27472 | [NAME] | [NAME] | Alphanumeric
NPCMS | Result | 27473 | Source | Source | Alphanumeric
NPCMS | Result | 27474 | Order Date | Order Date | Alphanumeric
NPCMS | Result | 27475 | Reason For Referral | Reason For Referral | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 42349-1
NPCMS | Result | 27476 | Method | Method | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
NPCMS | Result | 27477 | Result | Result | Alphanumeric
NPCMS | Result | 27478 | Interpretation | Interpretation | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 69047-9
NPCMS | Result | 50877 | MLPA Performed? | MLPA Performed? | Alphanumeric
NPCMS | Result | 27479 | Amendment | Amendment | Alphanumeric
NPCMS | Result | 27480 | Reviewed  By | Reviewed  By | Alphanumeric
NPCMS | Result | 27481 | Release Date | Release Date | Alphanumeric
NPCMS | [NAME] | FBC | Fibroblast Culture for Genetic Testing | Fibroblast Culture for Genetic Test | Cell Culture | Medium: Med |  |  | 30 | mg | Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.  Forms: If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.  Advise Express Mail or equivalent if not on courier service.   Submit only 1 of the following specimens:   Specimen Type: Autopsy Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), [NAME]'s solution, or normal saline [NAME]: 4-mm diameter Collection Instructions: 1. Wash biopsy site with an antiseptic soap. 2. Thoroughly rinse area with sterile water. 3. Do not use alcohol or iodine preparations. 4. Biopsy specimens are best taken by [NAME] to include full thickness of dermis.   	 [NAME]: 15-mL tube containing 15 mL of transport media [NAME]: 20-30 mg Collection Instructions: 1. Collect specimen by the transabdominal or transcervical method. 2. Transfer the chorionic villi specimen to a Petri dish containing transport medium (Supply T095). 3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.    [NAME] of conception or stillbirth Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), [NAME]'s solution, or normal saline [NAME]: 1 cm(3) of placenta (including 20 mg of chorionic villi) and a 1 cm(3) biopsy specimen of muscle/fascia from the thigh Collection Instructions: If a fetus cannot be specifically identified, collect 50 mg villus material or tissue that appears to be of fetal origin. Additional Information: Do not send entire fetus. Forms: Final Disposition of Fetal/Stillborn Remains form (if fetal specimen is sent) in Special Instructions.  	 [NAME]: Skin biopsy Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), [NAME]'s solution, or normal saline [NAME]: 4-mm diameter Collection Instructions: 1. Wash biopsy site with an antiseptic soap. 2. Thoroughly rinse area with sterile water. 3. Do not use alcohol or iodine preparations. 4. A local anesthetic may be used. 5. Biopsy specimens are best taken by [NAME] to include full thickness of dermis. | [NAME]: 5 mg/Products o | Hemolysis	NA Thawing	NA Lipemia	NA Icterus	NA Other	NA | Not applicable | Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST. | 41 days | 42 days |  | Profile |  |  | No | Yes
FBC | [NAME] | TISSUE | Tissue |  |  |  | Refrigerated
FBC | Order Question | CG030 | Source |  | Answer List
FBC | Option | CG030-1 | Autopsy
FBC | Option | CG030-2 | [NAME]
FBC | Option | CG030-3 | Products of Conception or Stillbirth
FBC | Order Question | CG033 | Reason for Referral |  | Plain Text
FBC | Result | 16167 | [NAME] | [NAME] | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 31208-2
FBC | Result | 16337 | [NAME] | [NAME] | Alphanumeric
FBC | Result | CG030 | Source | Source | Alphanumeric
FBC | Result | 16168 | Order Date | Order Date | Alphanumeric
FBC | Result | CG033 | Reason For Referral | Reason For Referral | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 42349-1
FBC | Result | 16172 | Method | Method | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
FBC | Result | 16175 | Interpretation | Interpretation | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 69965-2
FBC | Result | 16176 | Amendment | Amendment | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
FBC | Result | 16177 | Consultant | Consultant | Alphanumeric
FBC | Result | 16178 | Report Date | Report Date | Alphanumeric