Disorders


 

Episodic Ataxia Type 5


Synonym(s): EA5

 

OMIM

GeneLocusProtein
CACNB42q22-q23Voltage-dependent L-type calcium channel subunit beta-4

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
  
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
  
Istituto di Farmacologia Traslazionale - CNR, Laboratorio di Neurogenetica - Roma, Italy• Sequence analysis of the entire coding region
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• 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
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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.

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