Disorders


 

Spinocerebellar Ataxia Type12


Synonym(s): SCA 12, SCA12

 

GeneReviewOMIM

GeneLocusProtein
PPP2R2B5q32Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Targeted mutation analysis
  
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Targeted mutation analysis
  
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Targeted mutation analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
  
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
  
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium• Targeted mutation analysis
  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
  
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis
  

* 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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