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

April 12, 2022 01:17:37
Episode Cover

Committee Chairs - 1/28/08

The MitoAction committee chairs met by conference call to discuss the exciting ideas and projects ahead for 2008.

Listen

Episode 0

October 21, 2020 01:04:57
Episode Cover

Mitochondrial Medicine Society Update (2016) - Dr. Amy Goldstein - 4/3/2016

Dr. Amy Goldstein provides an update on the Mitochondrial Medicine Society. Areas of discussion include: Transplantation in Mito patients Stroke protocol for MELAS Standards...

Listen

Episode

March 07, 2025 01:01:25
Episode Cover

Expert Series: Understanding diseases of mitochondrial DNA maintenance

This presentation will focus on the diseases that disrupt the normal process of copying our mitochondrial DNA.  Dr. Copeland will summarize the genes (POLG,...

Listen