Specimen

Cultured Fibroblasts

Collection Medium:

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