Disorders

Mitochondrial Respiratory Chain Complex IV Deficiency (Mitochondrial Genes)

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

OMIM

Gene	Locus	Protein
MT-TS1	mitochondria	Cytochrome c oxidase subunit 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• 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

^* 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.