Disorders

Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3

Synonym(s): Mitochondrial Complex V (ATP Synthase) Deficiency, ATP5E Type 3

Gene	Locus	Protein
ATP5E	20q13.3	ATP synthase subunit epsilon, 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
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.