American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease : Genetics in Medicine : Nature Publishing Group

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease : Genetics in Medicine : Nature Publishing Group

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

• Lora Bean PhD
• & Pinar Bayrak-Toydemir MD, PhD
• ; on behalf of the ACMG Laboratory Quality Assurance Committee

• Affiliations
• Corresponding author

Genetics in Medicine

 

(2014)

 

doi:10.1038/gim.2014.146

Received

 

15 September 2014 

Accepted

 

15 September 2014 

Published online 

30 October 2014

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Abstract

• Abstract• 
• References• 
• Author information

Huntington disease is an autosomal-dominant neurodegenerative disease of mid-life onset caused by expansion of a polymorphic trinucleotide (CAG) repeat. Variable penetrance for alleles carrying 36–39 repeats has been noted, but the disease appears fully penetrant when the repeat numbers are >40. An abnormal CAG repeat may expand, contract, or be stably transmitted when passed from parent to child. Assays used to diagnose Huntington disease must be optimized to ensure the accurate and unambiguous quantitation of CAG repeat length. This document provides an overview of Huntington disease and methodological considerations for Huntington disease testing. Examples of laboratory reports are also included.

Genet Med advance online publication 30 October 2014

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Keywords:

 

clinical testing; Huntington disease; polyglutamine; practice guideline; trinucleotide repeat disorder