Disorders

Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency

Gene	Locus	Protein
SCO2	22q13.33	Protein SCO2 homolog

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
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	• Enzyme assay • Protein analysis
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Columbia University, Molecular Neurogenetics Laboratory - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

^* 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.