Disorders


 

Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes)


Synonym(s): COX Deficiency (nuclear genes), Cytochrome c Oxidase Deficiency, Mitochondrial Complex IV Deficiency (nuclear genes)

 

OMIM

GeneLocusProtein
COX1017p12 
COX1510q24 
COX6B119q13.1 
FASTKD22q33.3 
SCO117p13.1 
SCO222q13.33 
SURF19q33-q34 
TACO117q23.3Protoheme IX farnesyltransferase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• 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
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
Transgenomic - New Haven, CT, USA• Sequence analysis of the entire coding region
 
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA• Sequence analysis of the entire coding region
 
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain• 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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