Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT) or a related disorder
Second-tier testing for patients in whom previous targeted gene variant analyses for specific HHT genes were negative
Establishing a diagnosis of HHT and in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved
Identifying variants within genes known to be associated with HHT and allowing for predictive testing of at-risk family members
This test includes next-generation sequencing as well as supplemental Sanger sequencing to evaluate the genes listed on this panel.
Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes.
Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel:
-KVAR1 / Known Variant Analysis-1 Variant
-KVAR2 / Known Variant Analysis-2 Variants
-KVAR3 / Known Variant Analysis-3+ Variants.
Call 800-533-1710 to confirm the appropriate test ID for targeted testing if testing for a gene not included on this panel.
This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for variants in the ACVRL1, ENG, GDF2, RASA1, and SMAD4 genes.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
