Disorders

Combined Oxidative Phosphorylation Deficiency 8

Synonym(s): Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile, COXPD8

Gene	Locus	Protein
AARS2	6p21.1	Alanine--tRNA ligase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
GeneDx - Gaithersburg, MD, 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.