Spreadsheet: 157a062d-1a35-4d13-b850-034b293dcaf4
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
NIEM | Test | NIEM | Niemann-Pick Type C Detection, Fibroblasts | Niemann-Pick Type C, Fibro | NIEM/9313: Radiolabeled Lipid Extraction Using Thin Layer Chromatography CRYOB/88832: Fibroblast Subculture Followed by Cryopreservation and Storage | Skin biopsy: SknBp |  |  | 4 | [NAME] | This test is not recommended for prenatal testing.   Forms: 1.   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.   2. If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.   Submit only 1 of the following specimens:   Specimen Type: Cultured fibroblasts Container/Tube: T-75 or T-25 flask [NAME]: 1 full T-75 flask or 2 full T-25 flasks Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours   Specimen 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 |  | Hemolysis	NA Thawing	NA Lipemia	NA Icterus	NA Other	[NAME] in formalin or fixative preservative | If the results indicate that the patient's cultured fibroblasts esterify cholesterol at a level which is <10% of normal cultured fibroblasts and when filipin staining shows excessive storage of free cholesterol, it will be stated that the patient is positive for Niemann-Pick type C disease. All samples will be stained by filipin to see if a milder biochemical phenotype is the likely cause of the Niemann-Pick disease-like clinical picture. | Varies | 70-80 days depending on rapidity of growth | 80 days | 1 | 82658 |  |  |  |  | Rochester
NIEM | [NAME] | TISSUE | Tissue |  |  |  | See instructions
NIEM | Result | 29740 | [NAME] | [NAME] | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 31208-2
NIEM | Result | 29741 | [NAME] | [NAME] | Numeric
NIEM | Result | 29742 | Source | Source | Alphanumeric
NIEM | Result | 29743 | Order Date | Order Date | Alphanumeric
NIEM | Result | 29744 | Reason For Referral | Reason For Referral | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 42349-1
NIEM | Result | 29745 | Method | Method | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
NIEM | Result | 30173 | Cholesterol Esterification | Cholesterol Esterification | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
NIEM | Result | 29746 | Interpretation | Interpretation | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 59462-2
NIEM | Result | 29747 | Amendment | Amendment | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
NIEM | Result | 29748 | Reviewed By | Reviewed By | Numeric
NIEM | Result | 29749 | Release Date | Release Date | Alphanumeric
NIEM | [NAME] | FIBR | Fibroblast Culture | Fibroblast Culture | FIBR/8482: Cultivated from Biopsy as Monolayer CRYOB/88832: Fibroblast Subculture Followed by Cryopreservation and Storage | Eagle's minimum essential medium with penicillin, streptomycin, and [NAME]: Eagle |  |  | 4 | [NAME] | Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.  Submit only 1 of the following specimens:   Specimen Type: Cultured fibroblasts Container/Tube: T-75 or T-25 flask [NAME]: 1 full T-75 flask or 2 full T-25 flasks Specimen Stability Information: Refrigerated/Ambient Additional Information: 1. Include patient clinical history with request. This information will be used for any testing performed on the cultured cells. 2. Indicate the tests to be performed on the fibroblast culture cells.   Specimen 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/Ambient |  | Hemolysis	NA Thawing	NA Lipemia	NA Icterus	NA Other	[NAME] in formalin or fixative preservative | Not applicable | Varies | 40-45 days depending on rapidity of growth | 45 days | 1 | 88233 |  |  | Yes | Yes
FIBR | [NAME] | TISSUE | Tissue |  |  |  | See instructions
FIBR | Result | 8482 | Fibroblast Culture | Fibroblast Culture | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
FIBR | [NAME] | CRYOB | Cryopreservation for Biochemical Studies | Cryopreserve for Biochem Studies | Fibroblast Subculture Followed by Cryopreservation and Storage |  |  |  |  |  |  |  |  | Not applicable | Varies | 40-45 days depending on rapidity of growth | 45 days | 1 | 88240 |  |  | Yes | No
CRYOB | [NAME] | TISSUE | Tissue |  |  |  | See instructions
CRYOB | Result | 88832 | Cryopreserve for Biochem Studies | Cryopreserve for Biochem Studies | Alphanumeric
NIEM | [NAME] | CRYOB | Cryopreservation for Biochemical Studies | Cryopreserve for Biochem Studies | Fibroblast Subculture Followed by Cryopreservation and Storage |  |  |  |  |  |  |  |  | Not applicable | Varies | 40-45 days depending on rapidity of growth | 45 days | 1 | 88240 |  |  | Yes | No
CRYOB | [NAME] | TISSUE | Tissue |  |  |  | See instructions
CRYOB | Result | 88832 | Cryopreserve for Biochem Studies | Cryopreserve for Biochem Studies | Alphanumeric