Disorders


 

Leigh Syndrome (nuclear DNA mutation)


Synonym(s): Leigh Disease, Leigh Syndrome Due to Cytochrome c Oxidase Deficiency

 

OMIM

GeneLocusProtein
BCS1L2q35Mitochondrial chaperone BCS1
COX1017p12 
DLD7q31-q32Dihydrolipoyl dehydrogenase, mitochondrial
MTFMT15q22.31 
NDUFA1Xq24 
NDUFA102q37.3 
NDUFAF25q12.1 
NDUFAF68q22.1 
NDUFS12q33-q34 
NDUFS311p11.11 
NDUFS45q11.1 
NDUFS719p13 
NDUFS811q13.2 
NDUFV111q13 
SCO117p13.1 
SCO222q13.33 
SDHA5p15Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
SURF19q33-q34 

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Sequence analysis of the entire coding region
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• Sequence analysis of the entire coding region
• Enzyme assay
• Protein analysis
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA• Sequence analysis of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa• Sequence analysis of the entire coding region
 
Novogenia - Mondsee, Austria• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA• Sequence analysis of the entire coding region
 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Sequence analysis of the entire coding region
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA• Sequence analysis of the entire coding region

* 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.

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