Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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.
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.
Custom Sequence Capture and Targeted Next Generation Sequencing followed by qPCR or Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing