The Mitochondrial Medicine Society

Advancing education, research, and global collaboration in clinical mitochondrial medicine

On mitochondrial muscle biopsies


It is important to note that while muscle biopsies have historically been the "gold standard" test for mitochondrial disease, this is no longer the case. Muscle biopsies remain an important tool in the evaluation of a patient with potential mitochondrial disease - but genetic testing is now obtained first line. Please see the MMS "Diagnosis Guidelines" paper in Genetics in Medicine at this link for further information. 


Muscle biopsies are now obtained  in those with a diagnosis that cannot be confirmed with genetic testing.   Detailed information on the appropriate processing of muscle, list of needed tests and interpretation of results is available in the "Diagnosis Guidelines" paper referenced above.  

“Frozen” Tissue Testing Centers listed alphabetically

  1. Athena Diagnostics. Click here.
  2. Baylor College of Medicine Mitochondrial Laboratory, Baylor, TX. Click here.
  3. Center for Inherited Diseases in Metabolism, Cleveland, OH. Click here.
  4. Center for the Study of Mitochondrial Disease, Hospital for Sick Children, Toronto, ON. Click here.
  5. Columbia Merritt Center Laboratory for Medical Neurogenetics, Columbia NY. Click here.
  6. Denver Biochemical Genetics Laboratory, Denver, CO. Click here.
  7. Mayo Medical Laboratories, Rochester, MN. Click here.
  8. Medical Neurogenetics, Atlanta, GA. Click here.
  9. Mitochondrial & Metabolic Disease Center, University of California, San Diego, CA. Click here.
  10. Neurometabolic Clinic, McMaster University Medical Center, Hamilton, ON. Click here.
  11. Robert Guthrie Biochemical Genetics Labarotory, Buffalo Children’s Hospital, Buffalo, NY. Click here.

If you feel that there is a laboratory or clinic that belongs on this list, please notify us