Asuragen has launched a fast, easy-to-use and reliable diagnostic test, called AmplideX PCR/CE HTT Kit, for Huntington’s disease.
“AmplideX technology continues to demonstrate best-in-class performance and broad reach with the addition of HTT to our genetics portfolio,” Matthew McManus, MD, PhD, president and CEO of Asuragen said in a press release.
While healthy individuals may have up to 36 CAG repeats in the HTT gene, Huntington’s patients carry more than 40 expansions. This excessive number of CAG trinucleotide repeats leads to the production of a mutant huntingtin protein that accumulates in the brain and interferes with its proper functioning.
Detecting the number of repeats is not only vital for diagnosing the disease but also to assess its severity: the longer this repeat region, the earlier the onset for disease symptoms.
However, the existence of variable sequences within the HTT gene other than the CAG repeats makes it hard to assess with confidence the number of CAG repeats. As a result, it usually takes several rounds of analysis to confirm the number of CAG repeats, which delays diagnosis.
“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,” McManus added.
In a single run, the AmplideX test is capable of detecting more than 200 CAG repeats using DNA isolated from a drop of blood, delivering a result in six hours.
“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, MD, PhD, 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,” Squitieri added.
AmplideX test for Huntington’s disease is the latest addition to Asuragen’s diagnostic tests for other genetic diseases, including fragile X syndrome, amyotrophic lateral sclerosis (ALS), myotonic dystrophy, spinal muscular atrophy, and certain forms of Alzheimer’s disease.