Huntington disease Kit 1-FL

Huntington disease (HD) is a progressive neurodegenerative disorder, inherited in an autosomal dominant fashion, that presents with motor symptoms, cognitive impairment and psychiatric disturbances. HD is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein.

The Huntington Disease kit 1 - FL is intended to amplify by PCR the polymorphic CAG repetition contained in the exon 1 of HTT gene, which encodes for the huntingtin protein. This product finds its normal application in the molecular investigation of the Huntington Disease (HD).

Results interpretation needs to be performed in the context of clinical manifestations and other laboratory analysis.

The kit setup was performed according to the “EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease” (2013).