New clinical genetic test for muscle disorder to be launched
- Centre for Addiction and Mental Health licenses US diagnostics firm -
CAMH has applied for international patent protection for the diagnostic test developed by CAMH scientist
Physicians using the test will collect a small blood or saliva sample. They will send the sample to Athena Diagnostics for testing to identify mutations on the FHL1 gene. Genetic counsellors will assist the physician to interpret the results for the client and family members, to advise whether family members and offspring are at risk of inheriting the gene.
Linked to FHL1 gene
"Our test is for a specific muscle disorder that was recently identified. The disorder, which we call X-linked myopathy with postural muscle atrophy (XMPMA), is among the dozens of muscular dystrophies and other like conditions with similar symptoms. For that reason these disorders can be challenging to diagnose accurately," says
The development parallels recent research on similar movement disorders associated with mutations on the FHL1 gene, which is located on the sex-linked X chromosome carried by both females and males. Female children of carrier mothers are at 50% risk of becoming carriers; male children of carrier mothers will have a 50% chance of becoming affected with the disease.
"Identifying FHL1 mutations as responsible for XMPMA and related disorders was an important recent discovery, as was identifying this particular type of muscle disorder," says
"This licensing agreement between CAMH and Athena Diagnostics shows how our CAMH research program helps individual patients and their families, in
"We are thrilled that
The cost of the test - which will be available only through clinical services - has yet to be determined.
Athena Diagnostics is a reference laboratory dedicated to the development and commercialization of diagnostic testing for neurological, endocrine, and renal disorders. Using innovative technologies, Athena provides physicians with diagnostic answers that can improve the quality of health care for patients in a cost effective manner.
The Centre for Addiction and Mental Health (CAMH) is Canada's largest mental health and addiction teaching hospital, as well as one of the world's leading research centres in the area of addiction and mental health. CAMH combines clinical care, research, education, policy development, prevention and health promotion to help transform the lives of people affected by mental health and addiction issues. www.camh.netFor further information: Media contact: Michael Torres, Media Relations, CAMH at (416) 595-6015 or Michael_torres@camh.net