Disorders

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3

Synonym(s): PEOA3

Gene	Locus	Protein
C10orf2	10q24	Twinkle protein, mitochondrial

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Sequence analysis of the entire coding region
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Deletion/duplication analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Sequence analysis of the entire coding region
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Sequence analysis of the entire coding region
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• 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 • Deletion/duplication analysis
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Deletion/duplication analysis
Transgenomic - New Haven, CT, USA	• Sequence analysis of the entire coding region
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA	• 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.