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28 - 52 days
Testing for individuals who are at risk to have HHT (maybe affected or unaffected); the genetic mutation would have been determined already in another family member.
This test is performed at Impact Genetics, Bowmanville, Ontario, Canada. Please direct any questions regarding this test to Impact Genetics at 877-624-9769.
Genes tested: ENG (endoglin), HHT1; ACVRL1 (ALK1), HHT2; or SMAD4 (MADH4)
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Sequencing or quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes as needed for the known mutation type
Information on collection, storage, and volume
Whole blood or DNA
8.5 mL (adult); 5 mL (infant)
4 mL (adult); 2 mL (infant)
Yellow-top (ACD) tube or lavender-top (EDTA) tube
Room temperature. Stable at room temperature for five days
Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.