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Test Code NPCZ Niemann-Pick Type C Disease, Full Gene Analysis, Varies

Useful For

Second-tier test for confirming a biochemical diagnosis of Niemann-Pick type C (NPC)

 

Carrier testing of individuals with a family history of NPC in cases when an affected individual is not available for testing or disease-causing variants have not been identified

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If a skin biopsy is received, fibroblast culture will be performed at an additional charge.

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequencing/ Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

NPC1/NPC2 Genes, Full Gene Analysis

Specimen Type

Varies


Advisory Information


First-tier testing to screen for Niemann-Pick type C disease is available. Order OXNP / Oxysterols, Plasma.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Cultured fibroblasts

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

Specimen Volume: 1 Full T-75 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.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

CPT Code Information

81404-NPC2 (Niemann-Pick disease, type C2 [epididymal secretory protein E1]) (eg, Niemann-Pick disease type C2), full gene sequence

81406-NPC1 (Niemann-Pick disease, type C1) (eg, Niemann-Pick disease), full gene sequence

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NPCZ NPC1/NPC2 Genes, Full Gene Analysis 94211-0

 

Result ID Test Result Name Result LOINC Value
53533 Result Summary 50397-9
53534 Result 82939-0
53535 Interpretation 69047-9
53536 Additional Information 48767-8
53537 Specimen 31208-2
53538 Source 31208-2
53539 Released By 18771-6

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. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

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