Yale New Haven Hospital

Department of Laboratory Medicine
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Niemann-Pick Type C, known mutation

Lab Section: 

Sendout Reference


Lab Location: 


Reference Lab: 



Test ID: 




Polymerase chain reaction (PCR) followed by DNA sequencing and/or gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA)


Performed weekly, varies


20 days

Specimen Requirements: 

Collection: 5.0 mL Blood in a Lavender Top Tube.
Pediatric volume: 2 mL.
Whole blood. Lavender top (EDTA) or yellow top (ACD)
Transport: Ship ambient, Mon-Thurs.
Unacceptable conditions: No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.
Stability: Ambient (preferred)/Refrigerated



Clinical Indications: Second-tier test for confirming a biochemical diagnosis of Niemann-Pick type C (NPC) Carrier testing of individuals with a family history of NPC when an affected individual is not available for testing or disease-causing mutations have not been identified

Reference Interval: 

See patient report or consult reference laboratory website.


CPT Code(s): 

81404, 81406

Last Changed: 

11/22/2016 09:53:33

Last Reviewed: 

12/27/2016 00:58:46