Hereditary Hemorrhagic Telangiectasia (HHT), Proband

CPT: Call client services.
Print Share

Test Details

Test Includes

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

Use

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

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

Full gene sequencing and quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes

Specimen Requirements

Specimen

Whole blood or DNA

Volume

8.5 mL (adult); 5 mL (infant)

Minimum Volume

4 mL (adult); 2 mL (infant)

Container

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

Collection

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.

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
480074 HHT Proband 234041 Routing Not Available
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 480185 Seq ACVRL1 and or SMAD4 480185 Seq ACVRL1 and or SMAD4 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

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 https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf