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Huntington Disease: Molecular Diagnostics Approach.

Current protocols in human genetics - 6 Oct 2015

Bastepe Murat, Xin Winnie

Abstract excerpt

Huntington disease (HD) is caused by expansion of a CAG trinucleotide repeat in the first exon of the Huntingtin (HTT) gene. Molecular testing of Huntington disease for diagnostic confirmation and disease prediction requires detection of the CAG repeat expansion. There are three main types of HD genetic testing: (1) diagnostic testing to confirm or rule out disease, (2) presymptomatic testing to determine whether...

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Identifiers

PMID: 26439718
DOI: 10.1002/0471142905.hg0926s87

Genes

HTT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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