Disorders


 

Combined Oxidative Phosphorylation Deficiency 1


Synonym(s): COXPD1

 

OMIM

GeneLocusProtein
GFM13q25Elongation factor G 1

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GeneDx - Gaithersburg, MD, USA  
Medical Neurogenetics - Atlanta, GA, USA  
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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