Hereditary Hemorrhagic Telangiectasia Panel

New York
Approved

Genes

ACVRL1, ENG, GDF2, RASA1, SMAD4

Conditions

  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Juvenile Polyposis Syndrome (JPS)
  • Osler-Weber-Rendu Syndrome
  • Parkes Weber syndrome

Clinical Utility

  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Test Code

697

CPT Codes*

81405x2, 81406x2, 81479x1

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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

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