Disorders


 

TNFRSF13B-Related Common Variable Immune Deficiency


Synonym(s): Common Variable Immunodeficiency 2, CVID2

 

OMIM

GeneLocusProtein
TNFRSF13B17p11.2Tumor necrosis factor receptor superfamily member 13B

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
  
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic• Mutation scanning of select exons
 
Mayo Clinic - Minnesota, Molecular Immunology Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
• Protein analysis
 
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark• Sequence analysis of the entire coding region

* 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.

Loading...