Disorders

Ataxia with Oculomotor Apraxia 1

Synonym(s): AOA1, Ataxia with Oculomotor Apraxia I

Gene	Locus	Protein
APTX	9p13.3	Aprataxin

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus	• Linkage analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany

^* 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.