Hereditary Hemorrhagic Telangiectasia (HHT), Proband

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Test Details

Test Includes

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


Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing


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

Specimen Requirements


Whole blood or DNA


8.5 mL (adult); 5 mL (infant)

Minimum Volume

4 mL (adult); 2 mL (infant)


Yellow-top (ACD) tube or lavender-top (EDTA) tube


Whole blood samples must be received at Impact Genetics within five days 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.


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


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480074 HHT Proband 234041 Routing Not Available
480074 HHT Proband 480168 HHT Proband N/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480169 Copy # of ENG & ACVR1 480169 Copy # of ENG & ACVR1 N/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480184 Seq ENG 480184 Seq ENG N/A
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 480185 Seq ACVRL1 and or SMAD4 480185 Seq ACVRL1 and or SMAD4 N/A

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