Hereditary Hemorrhagic Telangiectasia (HHT) (Known Mutation)

CPT: Call client services.
Print Share

Test Details

Test Includes

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


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

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

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
480192 HHT Relative 234042 Routing 69482-8
480192 HHT Relative 480191 HHT Relative 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
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

For Providers

Please login to order a test.


© 2018  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at Additional information regarding LOINC® codes can be found at, including the LOINC Manual, which can be downloaded at