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Hereditary Hemorrhagic Telangiectasia (HHT) (Known Mutation)

CPT: Call client services.
Updated on 05/22/2019
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Test Includes

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

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

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.

Expected Turnaround Time

28 - 52 days

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 five days

Test Details


Testing for individuals who are at risk to have HHT (maybe affected or unaffected); the genetic mutation would have been determined already in another family member.


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


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
480192 HHT Relative 234042 Routing 69482-8
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
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 480189 Copy or Seq ACVRL1 or SMAD4 480189 Copy or Seq ACVRL1 or SMAD4 N/A

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