Disorders

X-Linked Hyper IgM Syndrome

Synonym(s): HIGM1, Hyper IgM Syndrome, X-Linked, Hyper-IgM Syndrome 1, XHIM, X-Linked Hyper-IgM Immunodeficiency

Gene	Locus	Protein
CD40LG	Xq26	CD40 ligand

Laboratory	Test Method	Prenatal	Carrier *
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Sequence analysis of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region • Protein analysis
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
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region • Protein analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• 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.