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Variantyx Expanded Genomic Unity Test

Variantyx has expanded the set of short tandem repeat expansions detected by its Genomic Unity line of whole-genome analysis tests, adding two recently characterized ataxia variants: the biallelic AAGGG expansion in RFC1 that causes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS); and the monoallelic, deep intronic GAA expansion in FGF14 that causes spinocerebellar ataxia 27B (SCA27B). Genomic Unity now analyzes 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 Framingham, Massachusetts-based company said.