Disorders

CHEK2-Related Susceptibility to Breast Cancer

Synonym(s): CHEK2-Related Breast Carcinoma

Gene	Locus	Protein
CHEK2	22q12.1	Serine/threonine-protein kinase Chk2

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of Goettingen, Institute of Human Genetics - Goettingen, Germany	• Deletion/duplication analysis

^* 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.