Disorders

Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1

Synonym(s): Nuclear-Encoded ATPase Deficiency, ATPAF2-Related

Gene	Locus	Protein
ATPAF2	17p11.2	ATP synthase mitochondrial F1 complex assembly factor 2

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
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Medical Neurogenetics - Atlanta, GA, USA	• 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

^* 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.