Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel Test code: 02352 • 6 genes

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel Test code: 02352 • 6 genes
$0.00

Test Description

The Fact DNA Vascular Malformation Genetic Test evaluates genes associated with hereditary hemorrhagic telangiectasia (HHT) and capillary malformation–arteriovenous malformation (CM-AVM) syndrome.

Because these vascular conditions can share similar clinical features, comprehensive genetic testing can evaluate multiple potential genetic causes through a single testing approach. Identifying an underlying genetic variant may provide valuable information to support clinical evaluation and appropriate medical management.

Who May Consider Testing?

Individuals with clinical signs, symptoms, or a family history suggestive of HHT or CM-AVM syndrome may benefit from genetic testing. Testing may help healthcare professionals:

  • Support or confirm a suspected diagnosis
  • Identify a genetic cause associated with a vascular malformation disorder
  • Provide information about potential health risks
  • Support appropriate medical monitoring and management
  • Help assess potential risks for family members
  • Inform genetic counseling and family-planning decisions

Why Early Diagnosis May Matter

Recognizing an inherited vascular disorder early may allow healthcare professionals to monitor patients appropriately and address potential complications before they become more serious.

Individuals who are asymptomatic but have a known familial pathogenic variant may also benefit from genetic evaluation. A confirmed genetic finding can help guide individualized medical care and decisions regarding medications or procedures that may require additional consideration.

Important: Medication decisions should always be made in consultation with a qualified healthcare professional. Genetic test results should be interpreted alongside the patient's medical history, clinical findings, and family history.

Genetic testing does not diagnose every vascular malformation or predict with certainty whether complications will occur. A negative result does not necessarily exclude a hereditary condition.