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63 - 98 days
Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing
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; 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).
Full gene sequencing and quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes
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 seven days.
Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.