Niemann-Pick Type C, Fibroblasts, Cultured Fibroblasts

Niemann-Pick Type C, Fibroblasts

Order Code:	NPTC
Epic Lab Code:	LAB4882
Order Form:	A-1a Miscellaneous Request or Epic Req

Commercial Mail-out Laboratory
6240 RCP
356-3527

Specimen:

Cultured Fibroblasts

Collection Medium:

Miscellaneous container; contact laboratory

Minimum:

1 T-75 or 2 T-25 flask(s) filled to neck with culture media.

Rejection Criteria:

Specimen received in formalin or fixative preservative is not acceptable.

Delivery Instructions:

Submit specimen to laboratory as soon as possible after collection.

Specimen Instructions:

This test is not recommended for prenatal testing.

Analytic Time:

Varies

Reference Range:

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. Cholesterol esterification values which are >10% but <80% of normal will be stained by Filipin to see if a milder biochemical phenotype is the likely cause of the Niemann-Pick disease like clinical picture.

Methodology:

Bioassay Using Cultured Patient Fibroblasts.

CPT Code:

82489, 88233