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Test Details
Turnaround Time
4 - 8 days
Use
Testing for a known HHT genetic mutation in a fetus when the mother or father have a confirmed genetic diagnosis of HHT
Special Instructions
This test is performed at Impact Genetics, Bowmanville, Ontario, Canada. Please direct any questions regarding this test to Impact Genetics at 877-624-9769.
Test Includes
Genes tested: ENG (endoglin), HHT1; ACVRL1 (ALK1), HHT2; or SMAD4 (MADH4)
Limitations
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).
Methodology
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.
References
Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease. J Med Genet. 2006 Feb; 43(2): 97-110. 15879500
Abdalla SA, Cymerman U, Rushlow D, et al. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 2005 Mar; 25(3): 320-321. 15712271
Cohen JH, Faughnan ME, Letarte M, Vandezande K, Kennedy SJ, Krahn MD. Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia. Am J Med Genet A. 2005 Aug 30; 137(2):153-160. 16059938
Gallione CJ, Richards JA, Letteboer TG, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006 Oct; 43(10):793-797. 16613914
Prigoda NL, Savas S, Abdalla SA, et al. Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations. J Med Genet. 2006 Sep; 43(9):722-728. 16690726
Specimen Requirements
Information on collection, storage, and volume
Specimen
Cultured amniocytes, CVS, or cord blood
Volume
8.5 mL blood
Minimum Volume
2 mL blood (infant); amniocytes in 2 T25 flask of cultured amniotic cells; CVS volume: as much as possible
Container
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.
Storage Instructions
Room temperature. Stable at room temperature for seven days.
Collection
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.