LEUKOCYTE ADHESION DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Leukocyte Adhesion Deficiency (LAD) panel analyzes three genes involved in the different subtypes of this primary congenital immunodeficiency, characterized by recurrent bacterial and fungal infections, delayed wound healing, persistent leukocytosis, and absence of pus at infection sites. This study identifies the classic forms of LAD type I, caused by mutations in ITGB2 that affect the expression of β2 integrins; LAD type II, associated with mutations in SLC35C1 that alter selectin glycosylation; and LAD type III, caused by defects in FERMT3, which compromise the activation of β1, β2, and β3 integrins. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel provides a precise molecular diagnosis that facilitates clinical management and the identification of hematopoietic stem cell transplantation candidates. The genes included in this panel are: ITGB2, SLC35C1, FERMT3.
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