Disorders


 

X-Linked Agammaglobulinemia


Synonym(s): Bruton's Agammaglobulinemia, XLA

 

GeneReviewOMIM

GeneLocusProtein
BTKXq21.33-q22Tyrosine-protein kinase BTK

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