Disorders


 

JAK2-Related Budd-Chiari Syndrome


 

OMIM

GeneLocusProtein
JAK29p24Tyrosine-protein kinase JAK2

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Mutation scanning of select exons
  
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  

* 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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