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HPS3 Mutation Analysis (Ashkenazi Jewish)

New York
Approved


Genes

HPS3

Conditions

  • Hermansky-Pudlak Syndrome

Clinical Utility

  • Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
  • Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background
  • Prenatal diagnosis

Lab Method

  • Capillary Sequencing

Test Code

189

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.