Disorders

X-Linked Agammaglobulinemia

Synonym(s): Bruton's Agammaglobulinemia, XLA

Gene	Locus	Protein
BTK	Xq21.33-q22	Tyrosine-protein kinase BTK

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Mutation scanning of the entire coding region
CGC Genetics - Porto, Portugal
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mayo Clinic - Minnesota, Molecular Immunology Laboratory - Rochester, MN, USA	• Protein analysis
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Linkage analysis
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway
Praxis fuer Humangenetik Wien - Vienna, Austria
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Protein analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* 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.