Disorders


 

Li-Fraumeni Syndrome


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

 

GeneReviewOMIM

GeneLocusProtein
TP5317p13.1Cellular tumor antigen p53

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

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