Genetic testing technology is advancing quickly, and testing options continue to improve.
If you or your family members do not have a genetic diagnosis, talk to your healthcare team or a physician experienced in mito care. They can assist in the diagnosis process using clinical tests, laboratory evaluations, image studies and/or tissue biopsies. As is often a requirement, other types of testing must be completed first before a request for genetic testing is made.
Genetic testing is costly. In some cases, tests are shipped out of province or country for processing. In certain provinces, genetic testing first requires provincial funding approval to receive coverage. If genetic test results come back negative, you may still have a mitochondrial disease. Consider requesting another panel of genetic testing in the future. Genetic testing may be negative or inconclusive now, but in 3-5 year’s time may be able to determine a diagnosis.
Depending on what type of mitochondrial disease you have, your siblings or future children may be at risk of developing mito. Passing on mito from parent to child depends on many factors, including whether the disease is caused by genetic mutations in the nuclear or mitochondrial DNA.
When a genetic diagnosis is made, healthcare teams and genetic counsellors will help determine if other family members are at risk and if that particular type of mito can be passed on to future children. You and your family may consider genetic testing and advise other family members to do the same.
MitoCanada is here to provide you with all the resources you need. If you have questions about genetic counselling, reach out to us at info@mitocanada.org .