Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia (HHT) affects 1 in 5,000 –10,000 individuals. It is a vascular disorder characterized by telangiectasias, arteriovenous malformations (AVMs), and recurrent nose bleeds (epistaxis). Telangiectasias are commonly detected on the buccal mucosa, tongue, lips, face, fingers, and chest, while AVMs are often found in the lung, liver, or brain. Diagnostic criteria, called the Curacao criteria, have been established for HHT. Diagnosis requires the presence of at least three of the following: epistaxis, telangietasias, a visceral lesion, and family history of HHT in a first degree relative. HHT is often diagnosed in adolescence or adulthood. However, cases of severely affected infants have been reported. Clinical features and age of onset of HHT may vary considerably, even within a family. 

Tests Available

Forms and Documents

Test Details

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


4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81405x2, 81406x2
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**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.