Disorders


 

Familial Paroxysmal Nonkinesigenic Dyskinesia


Synonym(s): Paroxysmal Dystonic Choreoathetosis, Paroxysmal Nonkinesigenic Dyskinesia, PNKD

 

GeneReviewOMIM

GeneLocusProtein
PNKD2q35Probable hydrolase PNKD

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of select exons
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• 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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