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Niemann-Pick Disease, Type C Panel.


Genes

NPC1, NPC2

Conditions

  • Niemann-Pick Disease

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

581

CPT Codes*

81406x1, 81404x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.