Disorders


 

PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia


Synonym(s): EPM1B, PRICKLE1-Related Progressive Myoclonic Epilepsy with Ataxia

 

GeneReviewOMIM

GeneLocusProtein
PRICKLE112p11-q12Prickle-like protein 1

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Sequence analysis of the entire coding region
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• 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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