Disorders


 

Episodic Ataxia Type 2


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

 

GeneReviewOMIM

GeneLocusProtein
CACNA1A19p13Voltage-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.

Loading...