4 - 8 days
Testing for a known HHT genetic mutation in a fetus when the mother or father have a confirmed genetic diagnosis of HHT
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. Maternal cell contamination is also performed.
Information on collection, storage, and volume
Cultured amniocytes, CVS, or cord blood
8.5 mL blood
2 mL blood (infant); amniocytes in 2 T25 flask of cultured amniotic cells; CVS volume: as much as possible
Amniocytes in 2 T25 flask of cultured amniotic cells. CVS in sterile tissue/culture medium. Amniocytes must be received at Impact Genetics within five days of collection. CVS must be received at Impact Genetics within 48 hours of collection. Do not freeze.
Room temperature. Stable at room temperature for seven days.
Blood samples and amniocytes must be received at Impact Genetics within five days of collection. CVS must be received at Impact Genetics within 48 hours of collection. Do not freeze.