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FRAMINGHAM, Mass. ~ Variantyx, a leader in genomic precision medicine, has announced the expansion of its Genomic Unity® line of whole genome-based tests. The product line now detects an industry-leading 37 repeat expansions, which can be used to diagnose 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 expanded set of short tandem repeat (STR) expansions includes 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).
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Christine Stanley, PhD, FACMG and Chief Director of Clinical Genomics at Variantyx commented on the development: "Short tandem repeat gene analysis and interpretation has always been challenging in clinical diagnostics. 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 expanded set of short tandem repeat (STR) expansions includes 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).
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Christine Stanley, PhD, FACMG and Chief Director of Clinical Genomics at Variantyx commented on the development: "Short tandem repeat gene analysis and interpretation has always been challenging in clinical diagnostics. 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."
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