Expanded STR Detection Capability Enables Variantyx to Diagnose Additional Genetic Disorders

2023-11-30

基因疗法

FRAMINGHAM, Mass.--(BUSINESS WIRE)-- Variantyx, a leader in genomic precision medicine, today announced that the set of short tandem repeat (STR) expansions detected by its Genomic Unity® line of whole genome-based tests has been expanded. With these additions, Variantyx becomes one of the first laboratories to offer testing for two recently characterized ataxia variants: the biallelic AAGGG expansion in RFC1 that causes cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and the monoallelic, deep intronic GAA expansion in FGF14 that causes spinocerebellar ataxia 27B (SCA27B). “Short tandem repeat gene analysis and interpretation has always been challenging in clinical diagnostics,” said Christine Stanley, PhD, FACMG, Chief Director of Clinical Genomics at Variantyx. “Because the entire genome is sequenced, Genomic Unity® testing has the ability to detect a broader range of STRs from a single sample compared to targeted technologies utilized by other laboratories. At Variantyx we’re committed to continually extending the detection capabilities of our whole genome-based platform and are pleased to now be able to provide extended analysis and interpretation of STRs which is expected to result in additional diagnostic answers for patients.” The product line now analyzes an industry-leading 37 repeat expansions, collectively enabling the genetic diagnosis of late-onset neuropathies, neuromuscular disorders and movement disorders - particularly ataxias - as well as early-onset disorders, including those with symptoms of epilepsy and intellectual disability. The additional detection capabilities are automatically included in all Genomic Unity® comprehensive analyses and relevant targeted analyses. About Variantyx Variantyx is an award-winning, technology-driven precision medicine company providing disruptive solutions for the genetic disorders, reproductive health, and precision oncology markets. The proprietary whole genome analysis platforms developed by Variantyx allow clinicians and patients to better understand a person’s genetic makeup, leading to unmatched diagnostic capabilities and improved personalized treatment recommendations. For more information, please visit . View source version on businesswire.com: Contacts Haim Neerman Haim.neerman@variantyx.com (617) 209-2090 Source: Variantyx View this news release online at:

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