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Article

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2012

Palomaki Glenn E, Richards C Sue

Abstract excerpt

PURPOSE: Documenting high analytic validity of the molecular diagnostic test for Huntington disease is important because of counseling implications. This dominantly inherited adult onset disorder (prevalence of three or more per 100,000) is characterized by chorea, ataxia, and personality changes. The molecular basis is excessive CAG repeats in the HTT gene. METHODS: External proficiency testing survey results...

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Source

Identifiers

PMID: 22237433
DOI: 10.1038/gim.0b013e3182310bb5

Genes

HTT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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