Disorders

Li-Fraumeni Syndrome, CHEK2-Related

Synonym(s): Li-Fraumeni Syndrome 2

Gene	Locus	Protein
CHEK2	22q12.1	Serine/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.