Disorders


 

Beta-Thalassemia


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

 

GeneReviewOMIM

GeneLocusProtein
HBB11p15.5Hemoglobin subunit beta

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of the entire coding region
 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
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• Sequence analysis of the entire coding region
Burc Molecular Genetics Laboratory - Istanbul, Turkey• 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
• Deletion/duplication analysis
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Linkage analysis
• Deletion/duplication analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Sequence analysis of the entire coding region
• 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
• Deletion/duplication analysis
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Sequence analysis of the entire coding region
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
Intergen Genetics Centre - Ankara, Turkey• Sequence analysis of the entire coding region
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - 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• Sequence analysis of the entire coding region
 
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Sequence analysis of the entire coding region
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of the entire coding region
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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• Sequence analysis of the entire coding region
 
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
 

* 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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