Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel Test code: 02352 • 10–21 days turnaround time 6 genes
Hereditary Hemorrhagic Telangiectasia and Capillary Malformation-Arteriovenous Malformation Panel
This panel analyzes genes associated with hereditary hemorrhagic telangiectasia (HHT) and capillary malformation-arteriovenous malformation (CM-AVM) syndrome, inherited vascular disorders that can cause abnormal blood vessel development and vascular malformations.
Because HHT, CM-AVM syndrome, and other vascular malformation disorders can have overlapping clinical features, comprehensive genetic testing allows for an efficient evaluation of multiple potential genetic causes based on a single clinical indication.
Individuals with clinical symptoms or findings suggestive of HHT or CM-AVM syndrome may benefit from genetic testing to:
- Establish or confirm a diagnosis
- Identify an underlying genetic cause
- Clarify potential health and vascular risks
- Guide appropriate medical management and surveillance
- Support early diagnosis and treatment
- Help reduce the risk of secondary complications and adverse outcomes
- Inform genetic counseling and family testing
- Identify potentially affected relatives who may benefit from clinical evaluation
Family Testing:
Asymptomatic family members of an individual with a known pathogenic variant associated with HHT may also benefit from targeted genetic testing. Identifying whether a family member carries the familial variant may help clarify their individual risk and allow for appropriate clinical evaluation, monitoring, and management.
Genetic information may also help healthcare professionals make informed decisions regarding medications and other factors that may require special consideration in individuals with an increased risk of vascular complications.
Important: Medication decisions should always be made in consultation with a qualified healthcare professional. Genetic testing should be interpreted in the context of the individual's medical history, family history, and other clinical findings.