Blood Tests for Mitochondrial Disease Diagnosis

June 23, 2022 • 01:22:26
Blood Tests for Mitochondrial Disease Diagnosis
MitoAction Expert Series
Blood Tests for Mitochondrial Disease Diagnosis

Jun 23 2022 | 01:22:26

/

Show Notes

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 discuss testing for mitochondrial disease using a blood sample.

About MEDomics

After 23 years in academia, Dr. Steve Sommer started MEDomics in order to apply a revolutionary technology called "NextGen sequencing" to clinical mitochondrial medicine. (www.medomics.com)

MEDomics sequences the entire mitochondrial DNA genome thousands of times.  That sometimes allows the diagnosis of mitochondrial disease to be made with a blood sample rather than with painful muscle biopsies.  MitoDx is a test of unprecedented power for diagnosing mitochondrial genome disease, which is roughly "half the elephant" of mitochondrial disease.

Other Episodes

Episode

June 24, 2022 • 02:36:58
Episode Cover

Medical Ethics and Patient Rights

Join in to listen to RN, Julie Gortze.

Listen

Episode

March 15, 2025 • 01:16:38
Episode Cover

Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening

Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder...

Listen

Episode 0

October 13, 2020 • 00:58:01
Episode Cover

The Overlap Between Mitochondrial Disorders and Disorders of Neurotransmitter Metabolism - Dr. Irina Anselm - 10/2/20

Join MitoAction and Dr. Irina Anselm for our October Mito Expert Series presentation titled, “Overlap Between Mitochondrial Disorders and Disorders of Neurotransmitter Metabolism”.  This...

Listen