Wednesday, May 30, 2012

Genetics Test for ALS now available

MDA The Summer MDA Newsletter had the following article:

“The Athena Diagnostics Division of Quest Diagnostics announced that on April 30, 2012 the first clinically available testing service designed to detect the C9ORF72 repeat expansion mutation that can cause both ALS and frontotemporal dementia (FTD). The C9ORF72 mutation was identified in September 2011 and appears to be the most common known cause of familial ALS, FTD and ALS with FTD. The mutation underlies approximately 40% of familial ALS cases, and also has been found to be responsible for about 8% of sporadic ALS. (Familial ALS refers to situations in which there is more than one known occurrence of ALS in the family; sporadic ALS refers to situations in which there is no known occurrence of the disease in other family members.)

The new genetic test is offered to help speed the diagnosis of ALS.ALS-Familial It will be available to clinicians as a standalone test or as part of multigene testing. For testing locations, visit the National Center for Biotechnology Information’s Genetic Testing Registry at

Those considering genetic testing should speak with their physician. Consultation with a genetic counselor, who can help obtain and interpret the results of genetic testing, is recommended.”

You might ask why this announcement is important to those of us living with Kennedy’s Disease. The most common misdiagnosis for for the mutated CAG triplets repeat gene is ALS. I was one of the people initially misdiagnosed and I know dozens of others that also were misdiagnosed with familial ALS. The initial misdiagnosis of ALS has shattered many lives causing unnecessary stress and often life changing decisions. Having a DNA test that covers approximately 48% of the occurrences of ALS will help rule out that particular disorder when the doctor is unaware of Kennedy’s Disease.

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