MOLECULAR STUDY HIPER IgM SYNDROME (GENES CD40LG, CD40, AICDA, UNG) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4206

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	92 days
Information:
Hyper IgM syndrome is a family of genetic disorders in which the level of Immunoglobulin M (IgM) antibodies is relatively high. The disorder causes immunodeficiencies, including a higher than normal susceptibility to various types of infections. Individuals with hyper-IgM syndrome typically also have a low number of neutrophils and platelets. Hyper-IgM syndrome type 1 is caused by mutations in the gene CD40LG, is by far the most common type, accounting for approximately 65-70% of the HIGM cases. Type 2 (mutations AICDA) occurs in less than 5% of cases, while type 3 (CD40 gene mutations) and type 5 (UNG gene mutations) in a small number of cases .
Links:
OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5
OMIM Entry - - 109535 - CD40 ANTIGEN; CD40
OMIM Entry - - 191525 - URACIL-DNA GLYCOSYLASE; UNG
OMIM Entry - - 300386 - CD40 LIGAND; CD40LG
OMIM Entry - - 605257 - ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA

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