Disorders

Mitochondrial DNA-Associated Leigh Syndrome and NARP

Synonym(s): mtDNA-Associated Leigh Syndrome and NARP

Gene	Locus	Protein
MT-CO3	mitochondria	Cytochrome c oxidase subunit 3
MT-ND1	mitochondria	NADH-ubiquinone oxidoreductase chain 1
MT-ND2	mitochondria	NADH-ubiquinone oxidoreductase chain 2
MT-ND3	mitochondria	NADH-ubiquinone oxidoreductase chain 3
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-ATP6	mitochondria	ATP synthase subunit a
MT-TK	mitochondria
MT-TL1	mitochondria
MT-TV	mitochondria
MT-TW	mitochondria

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis
Burc Molecular Genetics Laboratory - Istanbul, Turkey	• Targeted mutation analysis
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Targeted mutation analysis • Enzyme assay
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	• Targeted mutation analysis • Enzyme assay • Protein analysis
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA	• Targeted mutation analysis
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
diagenos - Osnabrueck, Germany	• Targeted mutation analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Targeted mutation analysis
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA	• Targeted mutation analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA	• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands	• Targeted mutation analysis
Rush University Medical Center, Genetics Laboratory - Department of Pathology - Chicago, IL, USA	• Targeted mutation analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Targeted mutation analysis
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA	• Targeted mutation analysis
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Targeted mutation analysis
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA	• Targeted mutation analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Targeted mutation analysis

^* 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.