Disorders


 

Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency


 

OMIM

GeneLocusProtein
SCO222q13.33Protein 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.

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