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Article

Challenges facing genetic diagnostics of Huntington's disease: an update.

Expert review of molecular diagnostics - 1 Feb 2026

Arning Larissa, Saft Carsten, Nguyen Huu Phuc

Abstract excerpt

INTRODUCTION: Since 1993, when a polymorphic CAG trinucleotide repeat was established as the cause of Huntington's disease (HD), fragment analysis has been the first-tier test in genetic diagnosis of HD. However, in recent years it has become increasingly clear that, in addition to the repeat length itself, sequence variations within the HTT repeat and elsewhere in the genome also play a crucial role in the onset...

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Identifiers

PMID: 41841481
DOI: 10.1080/14737159.2026.2642712

Genes

HTT

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