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Test ID NIEM Niemann-Pick Type C Detection, Fibroblasts

Useful For

Diagnosis of Niemann-Pick disease type C

 

This test is not useful for Niemann-Pick disease type C carrier detection.

Genetics Test Information

This is a diagnostic test for Niemann-Pick type C.

Method Name

NIEM: Radiolabeled Lipid Extraction Using Thin Layer Chromatography

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

Reporting Name

Niemann-Pick Type C, Fibro

Specimen Type

Tissue


Advisory Information


This test is recommended only after appropriate analyte testing of oxysterols:  see OXNP / Oxysterols, Plasma; OXYBS / Oxysterols, Blood Spot; or OXYWB / Oxysterols, Blood for more information.

Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

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).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Stability Information

Specimen Type Temperature Time
Tissue Varies

Reference Values

If the results indicate that the patient's cultured fibroblasts esterify cholesterol at a level that 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.

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82658-Niemann-Pick type C detection

88233-Fibroblast culture

88240-Cryopreservation for biochemical studies

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NIEM Niemann-Pick Type C, Fibro In Process

 

Result ID Test Result Name Result LOINC Value
30173 Cholesterol Esterification In Process
29746 Interpretation (NIEM) 59462-2
29748 Reviewed By 18771-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

NY State Approved

Yes

Testing Algorithm

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes Yes
CRYOB Cryopreserve for Biochem Studies No Yes

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.