Advanced Testing for Mitochondrial Disease

Mitochondrial Medicine at Children’s Hospital of Philadelphia (CHOP) is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics, individualized therapies, and basic, translational and clinical research dedicated to improving the health of patients of all ages living with mitochondrial disease. Integrated diagnostic tests developed at CHOP can provide definitive diagnosis, leading to better treatments.

Cutting-edge Mitochondrial Disease Testing

We’ve made progress in testing and new discoveries are happening every day to create additional methods to diagnose mitochondrial disease. Our lab is CAP-and CLIA-certified.

Anatomic pathology testing

Currently available:

  • Percutaneous muscle biopsy pathology testing, a novel, less-invasive sample collection through muscle biopsy that can be done in the clinic under local anesthesia

Under development:

  • Quantitative assays to determine percentage of mitochondrial abnormalities detected

Molecular testing

Currently available:

  • mtDNA genome sequencing and deletion quantification: The MitoGenome test uses long-range PCR fragment NGS next generation sequencing (NGS) analysis to target the mitochondrial genome, detecting single nucleotide variants (SNVs) with heteroplasmy (down to 1 percent) and large deletions. Heteroplasmy of large mtDNA deletions is quantified separately by ddPCR.
  • Integrated exome+ mtDNA genome test
  • POLG rapid sequencing
  • Rapid mito DNA sequencing
  • mtDNA content

Biochemical tests

Currently available:

  • Blood glutathione analysis
  • Ketone Body Panel: The test measures 3 ketones that are usually only produced in diseases: alpha-hydroxybutyrate is associated with mitochondrial dysfunction, beta-hydroxyisobutyrate is increased in patients with 3-hydroxyisobutyral-Coa Hydrolase (HIBCH) deficiency, a specific type of mitochondrial disease and gamma-hydroxybutyrate is a marker for succinate semialdehyde dehydrogenase deficiency (SSADH), but may also be taken as a medication. Together, we hope that by measuring these five ketones, we can help diagnose mitochondrial diseases.
  • Leukocyte CO Q10

Radiology imaging

Currently available:

  • Brain MRS
  • Rapid non-sedated brain MRI/MRS protocol

Under development:

  • MRI-based exercise testing


Under development:

  • Pupillometry
  • Retinal Imaging

Our team

Collaboration between clinicians and researchers in Mitochondrial Medicine has fostered CHOP’s advanced understanding of — and potential treatments for — mitochondrial disease. The Mitochondrial Medicine team is led by Marni Falk, MD, and Douglas C. Wallace, PhD, and genetic testing labs, led by Nancy B. Spinner, PhD, FACMG, Jin Wang MD, FACMG, ASCP (MB), Rebecca Ganetzky, MD, DABMG, Maria Rita-Santi, MD, PhD, Brian Harding, MA, DPhil, BM, BCh, FRCPath, and Angela Viaene, MD, PhD.

Next steps

If your patients would benefit from these tests, please contact us. One of our genetic counselors will reach out to you to discuss which tests are most appropriate and outline how samples should be collected, stored and sent to CHOP.

Contact us

To ask questions or order tests, contact us at 267-426-1447 or email

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Why Choose Us

Mitochondrial Medicine has the nation’s top pediatric specialists and researchers advancing understanding of mitochondrial disease.

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Your Initial Appointment

Learn more about scheduling an appointment and what to expect during your first visit with Mitochondrial Medicine.