Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced the launch of the AmplideX® PCR/CE HTT Kit*. This 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 (HD). 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 (SNPs) 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] not only demonstrated excellent concordance with our existing detection method, but allowed us to more simply and accurately size even extremely large CAG expansions,” said Ferdinando Squitieri, M.D., Ph.D., neurologist and head of the Huntington and Rare Diseases Unit at CSS-Mendel Institute and Scientific Officer of LIRH Foundation in Rome. “The Asuragen assay easily overcomes many of the technical challenges associated with detecting these repeats and enabled us to report our findings within the same day.”
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.
“AmplideX technology continues to demonstrate best-in-class performance and broad reach with the addition of HTT to our genetics portfolio,” said Matthew McManus, M.D., Ph.D., president and CEO of Asuragen. “For the laboratories tasked with analyzing these challenging targets, we provide them with the tools they need to report their results quickly, accurately, and confidently.”
* For Research Use Only. Not for use in diagnostic procedures.