January 26, 2021
GeneDx new genetic tests include repeat expansion analysis for spinocerebellar ataxia (SCA), Friedreich ataxia, and other common forms of hereditary ataxias.
With these additions, GeneDx has created a comprehensive and affordable offering that covers the vast majority of genes involved with pediatric-onset and adult-onset ataxias.
Ataxia refers to clumsiness or a loss of balance and coordination that is not due to muscle weakness. While there are a number of factors that can cause ataxia, approximately 60-70% of ataxia cases have an underlying genetic cause.1,2 Genetic testing for adult-onset ataxia is currently limited to a small number of diagnostic laboratories, most of which only offer a portion of the relevant testing, have long turnaround times, and high out of pocket costs to patients.
Most types of adult onset hereditary ataxia are caused by nucleotide repeat expansions within the deoxyribonucleic acid (DNA) and are usually identified by specialized testing. The remaining types of hereditary ataxia may be caused by single nucleotide variants (SNVs) and copy number variants (CNVs) that can be identified by sequencing and deletion/duplication testing.
“Individuals with ataxia need more diagnostic testing options for genetic forms of the disease,” said Amanda Lindy, Ph.D., FACMG, Director of Neurogenetics for GeneDx. “Historically, genetic testing for ataxia has been limited, creating a barrier for some individuals to obtain testing. GeneDx’s expanded test offerings provide the flexibility of ordering single or multi-gene repeat expansion analyses, concurrently or reflexively, with a phenotypically driven Xpanded panel or an exome. Thus covering the broadest possible differential, delivering more answers to patients and their families, and enabling precision medical management.”
“GeneDx has a deep clinical knowledge of the ataxias and related movement disorders, gained from our long history and industry-leading development of neurogenetic testing,” said Sean Hofherr, Ph.D., FACMG, Executive Vice President and CLIA Laboratory Director of GeneDx. “Expanding our menu to include adult-onset ataxias, in addition to the existing portfolio for childhood-onset ataxias, underscores GeneDx’s commitment to rare disease identification as well as filling an unmet need for patients and providers, alike.”