Disorders


 

Familial Paroxysmal Kinesigenic Dyskinesia


Synonym(s): Paroxysmal Kinesigenic Choreoathetosis, Paroxysmal Kinesigenic Dyskinesia

 

GeneReviewOMIM

GeneLocusProtein
PRRT216p11.2Proline-rich transmembrane protein 2

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
diagenos - Osnabrueck, Germany  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
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.

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