What You Should Know About Genetic Testing for Mitochondrial Disorders

June 24, 2022 01:06:36
What You Should Know About Genetic Testing for Mitochondrial Disorders
MitoAction Expert Series
What You Should Know About Genetic Testing for Mitochondrial Disorders

Jun 24 2022 | 01:06:36

/

Show Notes

Join Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx as she discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders."

Talking points include:

  • Many genetic testing options for Mito patients are available and no one test is right for every individual patient.
  • Sample type matters when testing for mitochondrial disorders.
  • Detailed clinical information and family member testing is important for the interpretation of genetic testing.
About The Speaker

Amanda Balog is a board-certified genetic counselor and is the lead genetic counselor for the Mitochondrial and Metabolic Testing Programs at GeneDx. Prior to joining GeneDx, Amanda worked for several years as a clinical and research genetic counselor specializing in immune and lysosomal storage disorders.

Other Episodes

Episode

March 12, 2025 01:02:47
Episode Cover

Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure

Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart...

Listen

Episode 58

November 05, 2021 01:27:22
Episode Cover

Whole genome sequencing with comprehensive re-analysis in undiagnosed or unclear causes with mitochondrial dysfunction: How this can lead to improved diagnosis, treatment, and clinical outcomes.

Join MitoAction and Dr. Richard Boles for our November Mito Expert Series presentation titled: Whole genome sequencing with comprehensive re-analysis in undiagnosed or unclear...

Listen

Episode

June 24, 2022 01:34:34
Episode Cover

Interpreting Genetic Testing

Join us with Dr. Richard Boles as we learn more about how to interpret genetic test results. The landscape today for a mitochondrial disease...

Listen