If an HHT mutation has already been identified in a family, genetic testing of at-risk family members for the known mutation will identify which family members have HHT and therefore need to be screened for internal AVMs. If you are the first member of your family to be genetically tested to identify the gene mutation that causes HHT in your family, there are three possible results:.
If you are being genetically tested for the specific HHT-causing mutation that was identified in a family member, there are two possible results:. We encourage families to visit an HHT Center of Excellence because they provide the most comprehensive expert care. If you are not able to travel to a Center, then most primary care providers will be able to order the test, though they may want to consult with an HHT Center.
A physician may also refer you to a lab that offers testing for HHT and employs genetic counselors who can assist care providers with test ordering, facilitate sample collection and shipping, and help to interpret the results. Establishing a diagnosis at a young age can be crucial to improving their quality of life!
You or another affected family member should seek genetic testing to identify the HHT-associated gene. It would be recommended that you visit and HHT Center of Excellence and discuss your family history and genetic testing options with the genetic counselor on staff. If your physician refers you to genetic counseling for HHT you can access the online scheduling system or call Most insurance policies cover genetic testing as a standard lab procedure. Pre-authorization is often required, but physicians or genetic counselors who are familiar with genetic testing are also familiar with pre-authorization and will be able to help you through the process.
It is rare for an insurance policy to specifically exclude genetic testing, but labs are equipped to assist patients in verifying their coverage. These laws do not currently extend to life insurance — companies are permitted to consider genetic test results when reviewing an applicant for life insurance. If the patient has had an allogeneic blood or marrow transplant or a recent ie, less than 6 weeks from time of sample collection heterologous blood transfusion, these results may be inaccurate due to the presence of donor DNA.
At this time, it is not standard practice for the laboratory to systematically review likely pathogenic variants or variants of uncertain significance that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Contact the laboratory if additional information is required regarding the transcript or human genome assembly used for the analysis of this patient's results. Genet Med. GeneReviews [Internet]. University of Washington, Seattle; Updated February 2, Accessed February 16, Available at www.
Updated March 9, Accessed February 16, Updated September 12, Accessed September 13, Am J Med Genet A. J Thromb Haemost. For instance, her husband in recent years has experienced neurologic symptoms that have not yet been traced with certainty to a particular genetic variant. Things are clearer these days with HHT. ARUP began sequencing for the known genes that cause this condition in Treatment may include controlling bleeding and anemia and preventing complications from abnormal artery-vein connections in the lungs and brain.
Skip directly to site content Skip directly to page options Skip directly to A-Z link. Blood Disorders. Section Navigation. Facebook Twitter LinkedIn Syndicate. Minus Related Pages. Signs Nosebleeds are the most common sign of HHT, resulting from small abnormal blood vessels within the inside layer of the nose.
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