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

ACVRL1, ENG, GDF2, RASA1, SMAD4
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

697
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

697C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com