Disorders

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4

Synonym(s): PEOA4

Gene	Locus	Protein
POLG2	17q23.3	DNA polymerase subunit gamma-2

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Novogenia - Mondsee, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Transgenomic - New Haven, CT, USA
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA

^* 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.