Disorders


 

Hemoglobin S Beta-Thalassemia


 

OMIM

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
• Targeted mutation analysis
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
• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication 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
• Targeted mutation analysis
 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, 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
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Targeted mutation analysis
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Sequence analysis of the entire coding region
• Targeted mutation 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
• Targeted mutation analysis
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada• Sequence analysis of the entire coding region
• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Mutation scanning of the entire coding region
• Targeted mutation analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA• Sequence analysis of the entire coding region
• 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.

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