Genetic Testing

It’s recommended that you see a certified genetic counselor to help with the process of getting tested for RYR-1-related diseases. There are genetic testing laboratories that specifically test for RYR1 mutations. Listed below are some of the companies, please click on their logo to learn more information. If you are a patient or a family member of an individual with an RYR-1-related disease and need further assistance, please contact Lindsay Goldberg, Patient Liaison, lindsay@ryr1.org.

A CLIA- and CAP-certified laboratory, which offers cutting-edge DNA diagnostic services.

An accredited clinical DNA testing laboratory.

Invitae (“in-VEE-tay”) makes it easy to access your unique genetic information, so you can take control of your health.

Specializing in analytics and diagnostic services for rare neurological disorders.

Virtual genomic services through telehealth and innovative technology.

Companies

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