Susceptibility to infections
Analysis ID 90
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Susceptibility to infections
OMIM +154545
Clinical information MBL2 protein belongs to a group of lectins and its involved in innate primary immune response. Level of MBL2 protein in humans is variable, and depends mainly on the number of polymorphisms of the MBL2 gene. Deficiency of the MBL2 protein predispose to acute infections occurring in neonates, children or adults. Despite susceptibility to infections, other disorders such as systemic lupus erythematosus or rheumatoid arthritis can be linked to low levels of the MBL2 protein.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes MBL2
Analysis description Sequencing analysis of the MBL2 gene, involving several polymorphism: G-550C , G-221C (located in the exon1) and C223T, G230A, G239A (located in the promoter region )
Analysis indication Susceptibility to infections
Analysis time Adjusted individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders