A new genetic testing service for amyotrophic lateral sclerosis (ALS) is now available from Quest Diagnostics’ Athena Diagnostics, its Worcester, Mass-based business unit, according to a recent news release. The testing service is clinically available and designed to detect hexanucleotide repeat expansion in the C9orf72 gene. Data from a prior multi-national study population, published in The Lancet, reportedly indicated that this C9orf72 mutation was present in 39% of familial ALS cases examined, and between 4% and 8% in sporadic cases. 

Richard Bedlack, MD, director of the Duke University ALS Clinic, explains that the, “preliminary work suggests that this is the most common identifiable cause for ALS in patients with or without a family history of disease.” Researchers add that the data suggests the hexanucleotide repeat expansion of the C9orf72 gene is also linked to familial and sporadic Frontotemporal dementia (FTD).

The news release also notes that Athena Diagnostics will unveil the new testing service at the American Academy of Neurology (AAN) annual meeting, April 21 to April 28, New Orleans, La. Jeff Weisberg, vice president and general manager for Athena Diagnostics, emphasizes the importance of the findings, since it can take up to a year to diagnose ALS and many patients may be initially misdiagnosed. “We believe C9orf72 testing has the potential to significantly enhance the quality and speed of diagnosis for many patients under evaluation for this disorder,” Weisberg says.

The testing service will reportedly be available to clinicians for ALS and FTD as a standalone offering and in multi-gene evaluations on April 30. Athena Diagnostics adds that it now offers genetic testing services for identifying eight other genes linked to ALS, which collectively account for 70% of ALS. Athena Diagnostics emphasizes the importance of genetic counseling for patients and their families, prior to ordering genetic testing. 

Source(s): Quest Diagnostics, Athena Diagnostics