Disorders

Episodic Ataxia Type 2

Synonym(s): EA 2, EA2, Episodic Ataxia 2, Episodic Ataxia Type II

Gene	Locus	Protein
CACNA1A	19p13	Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Istituto di Farmacologia Traslazionale - CNR, Laboratorio di Neurogenetica - Roma, Italy	• Linkage analysis
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria
Ruhr University, Human Genetics - Bochum, Germany
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of select exons
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.