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Diagnosis


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 causes with mitochondrial dysfunction: How...


Whole Genome Sequencing for Rare Disorders: The Future Is Here

Join MitoAction , Christine Stanley, Chief Director of Clinical Genomics at Variantyx and David Keane, Director of Rare Disorders at Variantyx, Inc. for our Monthly Mito Expert Series presentation...


Mito Basics: Genetics, Testing & Financial

Join MitoAction and David Keane from GeneDX for our December Monthly Mito Expert Series presentation titled: Mito Genetic Basics: Disease, Testing and Financial.      About the Speaker: David Keane...


Genetic Testing – Genome Sequencing A-Z for Mitochondrial Disease

When: Dec 6, 2019 12:00 PM Eastern Time (US and Canada) Topic: Genetic Testing – Genome Sequencing: A-Z for Mitochondrial Disease Please click the link below to join the...


Mitochondrial Medicine Society Publications

Join us with Dr. Sumit Parikh, Director of the Cleveland Clinic Neurogenetics, Metabolic and Mitochondrial Disease program, and past president of the Mitochondrial Medicine Society. Learn more about the 2014-2015...


Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include: Primary mitochondrial disease (PMD) is ideally diagnosed by...


Genetics, Genomics & Mitochondrial DNA Testing

Tools for Testing Mitochondrial Disorders: The Latest Advances in Genetics and Genomics Guest speaker Dr. Richard Boles from Children’s Hospital Los Angeles and Courtagen Life Sciences, Inc. to discuss:...


DTC Testing – Power & Pitfalls

Join MitoAction and Dr. Fran Kendall to discuss Direct to Consumer genetic testing (DTC testing) in detail. Some talking points will include: Strengths and limitations of DTC testing. Studies and...


Muscle Biopsy Testing with Dr Fran Kendall

For many years, muscle biopsy has been considered the “best” way to obtain an accurate diagnosis of mitochondrial disease.  Muscle biopsy is costly, it is invasive, and is occasionally...


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 discuss testing for mitochondrial disease...