Disorders

Hemoglobin S Beta-Thalassemia

Gene	Locus	Protein
HBB	11p15.5	Hemoglobin subunit beta

Laboratory	Test Method	Prenatal	Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• 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	• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Sequence analysis of select exons • Targeted mutation analysis
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada	• Targeted mutation analysis
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Targeted mutation analysis
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Mutation scanning of the entire coding region • Targeted mutation analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Targeted mutation analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA	• Targeted mutation 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.