Disorders

Mitochondrial Disorders

Synonym(s): Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Oxidative Phosphorylation Disorders, Respiratory Chain Disorders

GeneReview OMIM

Gene	Locus	Protein
MT-ND1	mitochondria	NADH-ubiquinone oxidoreductase chain 1
MT-ND4	mitochondria	NADH-ubiquinone oxidoreductase chain 4
MT-ND5	mitochondria	NADH-ubiquinone oxidoreductase chain 5
MT-ND6	mitochondria	NADH-ubiquinone oxidoreductase chain 6
MT-TA	mitochondria
MT-TC	mitochondria
MT-TD	mitochondria
MT-TF	mitochondria
MT-TH	mitochondria
MT-TL2	mitochondria
MT-TM	mitochondria
MT-TQ	mitochondria
MT-TR	mitochondria
MT-TS2	mitochondria
MT-TT	mitochondria
MT-TY	mitochondria	ATP synthase subunit a
MT-ATP6	mitochondria	ATP synthase subunit a
MT-TK	mitochondria
MT-TL1	mitochondria
MT-TS1	mitochondria	Cytochrome c oxidase subunit 1
MT-TV	mitochondria
MT-TW	mitochondria

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis • Enzyme assay
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
Center for Human Genetics, Inc - Cambridge, MA, USA
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Mutation scanning of the entire coding region • Analyte • Enzyme assay
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Enzyme assay • Protein analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Targeted mutation analysis
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.