Genetic Testing Service Introduced for Amyotrophic Lateral Sclerosis

A clinically available genetic testing service for amyotrophic lateral sclerosis depends on the detection of a hexanucleotide repeat expansion in the C9orf72 gene.

In a multinational study population, the C9orf72 mutation was present in up to 39% of inherited ALS cases examined, and between 4%-8% in sporadic cases. The test is being offered to aid in the diagnosis of familial and sporadic ALS. The study was published in the April 2012 issue of the Lancet.

ALS is a neurodegenerative disorder that causes progressive muscle weakness, leading to difficulty walking, breathing, and speaking, and eventually death. Onset is usually between the ages of 40 and 60. The hexanucleotide repeat expansion of the C9orf72 gene also appears to be associated with familial and sporadic Frontotemporal dementia (FTD), the second most common form of early-onset dementia after Alzheimer's disease.

Athena Diagnostics (Worcester, MA, USA) unveiled the new testing service at the American Academy of Neurology (AAN) Annual Meeting in New Orleans (LA, USA) April 21-April 28, 2012. Athena Diagnostics is a division of Quest Diagnostics.

The C9orf72 testing service was made available to clinicians for ALS and FTD as a standalone offering and in multigene evaluations on April 30, 2012. Athena Diagnostics offers genetic testing services for identifying eight other genes associated with ALS. Together, these genes account for up to 70% of familial ALS. The company recommends genetic counseling for patients and their families before any genetic test is ordered.

"The diagnosis of ALS can take up to a year, and many patients are initially misdiagnosed with another condition," said Jeff Weisberg, vice president and general manager for Athena Diagnostics. "We believe C9orf72 testing has the potential to significantly enhance the quality and speed of diagnosis for many patients under evaluation for this disorder."

Related Links:
Athena Diagnostics
Quest Diagnostics