Disorders


 

Alpha-Thalassemia


Synonym(s): Alpha Thalassemia

 

GeneReviewOMIM

GeneLocusProtein
HBZ16p13.3Hemoglobin subunit alpha

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Burc Molecular Genetics Laboratory - Istanbul, Turkey• 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
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• 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
• Targeted mutation analysis
• Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Deletion/duplication analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Targeted mutation analysis
• Deletion/duplication analysis
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
• Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
InterGenetics - Diagnostic Genetic Center, InterGenetics - Athens, Greece• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Deletion/duplication analysis
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore• Deletion/duplication analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Targeted mutation analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Health Network, Molecular Diagnostics Laboratory - Toronto, Canada• Targeted mutation analysis
 
University of California, San Francisco, Molecular Diagnostics Laboratory - San Francisco, CA, USA• 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
• 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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