Consider DravetGenetic Testing

GENETIC TESTING

Individuals who exhibit signs and symptoms of Dravet syndrome should be referred for diagnostic testing. Most, but not all patients who receive a clinical diagnosis will also test positive for a mutation of the SCN1A gene. Should mutation-specific treatments or a cure become available, genetic test results will be essential.

 

As genetic testing becomes more precise, researchers suspect that similar gene mutations will be found in most people with a clinical diagnosis of Dravet syndrome. Mutations in SCN1A, SCN2A, SCN9A, SCN2B, and GABRG2 have all been associated with the Dravet syndrome spectrum.

 

The list below contains some of the more common labs in the U.S. that offer genetic testing.

 

Invitae
www.invitae.com

 

Athena Diagnostics
www.athenadiagnostics.com

 

GeneDX
www.genedx.com

 

Patients outside of the U.S. and/or those without insurance may want to investigate the free genetic testing program offered by DSF Spain.  More information may be found here