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Leukocyte Adhesion Deficiency
ITGB2 (Integrin Beta-2, CD18)
Leukocyte adhesion deficiency type 1 (LAD-1) is a phenotypically variable immune deficiency characterized by recurrent bacterial and fungal infections, slow wound healing, periodontitis and impaired pus formation. Delayed separation of the umbilical cord may be the first sign of the disorder in an infant. Patients have absent or severely reduced expression of beta-2 integrin (CD18 antigen) on the surface of their leukocytes.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 2-16 of the ITGB2 gene (all coding exons). New in 2009, if sequencing identifies a mutation on only one allele, focused array CGH analysis with exon-level resolution (ExonArrayDx) will be performed to evaluate for a deletion or duplication of one or more exons of this gene. For more details see the linked Information Sheet below.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
LAD, LAD1, LAD-1, Integrin, Immunodeficiency, CD18, Leucocyte adhesion, umbilical cord
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