Disorders

Beta-Thalassemia

Synonym(s): Beta Thalassemia, Cooley's Anemia, Mediterranean Anemia

Gene	Locus	Protein
HBB	11p15.5	Hemoglobin subunit beta

Laboratory	Test Method	Prenatal	Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
ATS GeneTech Private Limited, GeneTech - Hyderabad, India	• Targeted mutation analysis
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis • Linkage analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Children's Hospital and Research Center Oakland, Hemoglobinopathy Reference Laboratory - Oakland, CA, USA	• Mutation scanning of the entire coding region • Targeted mutation analysis
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Intergen Genetics Centre - Ankara, Turkey
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Mutation scanning of the entire coding region
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore	• Sequence analysis of select exons
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis • Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Mutation scanning of the entire coding region
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Targeted mutation analysis
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, 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.