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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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