Genetic Testing
Genetic testing determines if someone carries an LHON mutation. Some labs do a panel test for only the three most common LHON mutations, while others include the rare LHON mutations. Comprehensive testing of the mitochondrial genome identifies the rarest LHON mutations. This video, LHON Genetic Testing, provides an overview of various approaches to LHON genetic testing.
Genetic testing can be ordered by a physician or a genetic counselor. It can take weeks to months to get genetic test results. Some labs offer discount programs when it’s not covered by insurance.
Here are some labs that perform LHON genetic testing.
Free genetic testing can be directly requested by the patient through an organization called Probably Genetic. To start the application, create an account here.
When a relative of someone who has genetic test results confirming an LHON mutation is “on the maternal bloodline” and chooses to get genetic testing done, they can save money and time by testing only for the specific LHON mutation known to be in the family. It can be helpful to have a copy of the relative’s genetic test results. The lab can do something called a “Known Familial Mutation Test” or a “Familial Variant Targeted Test” where they specifically test only for the mutation known to be in that family. Because the genetic test is targeted and limited, it is much less expensive and faster than the broader testing done when a family is new to LHON.
