Disorders


 

Li-Fraumeni Syndrome, CHEK2-Related


Synonym(s): Li-Fraumeni Syndrome 2

 

OMIM

GeneLocusProtein
CHEK222q12.1Serine/threonine-protein kinase Chk2

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Targeted mutation analysis
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
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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