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

June 23, 2022 • 01:22:26
Episode Cover

Blood Tests for Mitochondrial Disease Diagnosis

As a follow-up discussion to Dr. Fran Kendall's presentation on "Muscle Biopsy Testing for Mitochondrial Disease", MitoAction welcomes Dr. Steve Sommer of MEDomics to...

Listen

Episode

November 21, 2025 • 01:00:39
Episode Cover

All About Ketones

There has been interest in using Ketones as a treatment for FAOD. What exactly are ketones? This presentation will go over what ketones are,...

Listen

Episode

March 18, 2022 • 00:52:51
Episode Cover

MELAS Spectrum Disorders and Sonlicromanol: Progress Update

Join MitoAction and Dr. Jan Smeitink, CEO of Khondrion for our our March Expert Series presentation. MELAS spectrum (m.3243A>G) disorders belong to the most...

Listen