Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Use
This test is intended for individuals with clinical features suggestive of Hereditary Hemorrhagic Telangiectasia (HHT) or Capillary Malformation-Arteriovenous Malformation (CM-AVM) syndrome. It is also suitable for individuals exhibiting symptoms such as capillary malformations, port wine stains, arteriovenous malformations, frequent nosebleeds, mucosal telangiectases, as well as any degree of gastrointestinal, pulmonary, or cerebral hemorrhage. Additionally, it is beneficial for individuals with prior negative results from single-gene HHT testing and those with a family history of HHT.
Special Instructions
Not provided.
Limitations
Results may be impacted by factors related to the sample type and collection method. NGS with CNV might not detect all alterations in the genes analyzed and is limited to the specific conditions tested for.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided