Disorders


 

Pontocerebellar Hypoplasia Type 1A


 

OMIM

GeneLocusProtein
VRK114q32.2Serine/threonine-protein kinase VRK1

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  

* 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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