Disorders

Li-Fraumeni Syndrome

Synonym(s): SBLA Syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)

Gene	Locus	Protein
TP53	17p13.1	Cellular tumor antigen p53

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Sequence analysis of select exons
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA	• Sequence analysis of select exons
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Huntington Medical Research Institutes, Cancer Genetics Laboratory - Pasadena, CA, USA
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Intergen Genetics Centre - Ankara, Turkey
InVitae Corporation - San Francisco, CA, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada
Masaryk Memorial Cancer Institute, Cancer Epidemiology and Genetics - Brno, Czech Republic
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Mutation scanning of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
St George's University of London, SW Thames Molecular Genetics Diagnostic Laboratory - London, Great Britain
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland
University of Bonn, Institute of Human Genetics - Bonn, Germany
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA	• Sequence analysis of select exons
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, 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.