According to Asuragen, the product is a simple, robust, and reliable test for the detection of CAG trinucleotide repeats within the HTT gene, aberrations which are associated with the development of Huntington's Disease.
The HTT Kit adds to Asuragen's growing portfolio of genetic assays which also includes kits for genotyping variants in FMR1, C9orf72, TOMM40, DMPK, and SMN1.
HD is a progressive, autosomal dominant, and invariably fatal neurodegenerative disease which involves slowly worsening motor movement dysfunction, cognitive impairment, and psychiatric disorders.
The disease is defined by the presence of ≥40 pathogenic CAG repeats in exon 1 of the HTT gene.
Detection and sizing of these expansions is challenged by the presence of single nucleotide polymorphisms and variable, non-pathogenic CCG repeats which flank the CAG expansion region of interest.
This sequence heterogeneity complicates CAG repeat genotyping and usually requires multiple PCRs.
The AmplideX PCR/CE HTT Kit features a streamlined, single-well PCR workflow with the ability to detect and size expansions with >200 CAG repeats in as few as six hours.
The kit provides all necessary reagents to accurately size these expansions from as little as 10 ng DNA isolated from whole blood.
Powered by Asuragen's proprietary AmplideX technology, the assay's robust, two-primer design addresses sample zygosity and preserves the CAG repeat profile even in the presence of adjacent SNPs.
Similar to other assays within the AmplideX portfolio, the assay is indicated for use on the established suite of Applied Biosystems Genetic Analyzers, including the 3130, 3500, and 3730 platforms.
Asuragen is a molecular diagnostic product company changing the way patients are treated in genetics and oncology. Asuragen's diagnostic systems, composed of proprietary chemistry and software, deliver powerful answers using broadly installed instrument platforms.
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