Hereditary Hemorrhagic Telangiectasia (HHT), Prenatal

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Test Details

Test Includes

Genes tested: ENG (endoglin), HHT1; ACVRL1 (ALK1), HHT2; or SMAD4 (MADH4)

Use

Testing for a known HHT genetic mutation in a fetus when the mother or father have a confirmed genetic diagnosis of HHT

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.

Specimen Requirements

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.

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.

Storage Instructions

Room temperature. Stable at room temperature for seven days.

Clinical Information

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.

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480216 HHT Prenatal 234043 Routing 53837-1
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480189 Copy or Seq ACVRL1 or SMAD4 480189 Copy or Seq ACVRL1 or SMAD4 N/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480197 Sequencing of Eng 480197 Sequencing of Eng N/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480198 Copy # ENG 480198 Copy # ENG N/A

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