Leukocyte adhesion deficiency and chemotaxis disordersDescription
The Sanquin Leukocyte adhesion deficiency NGS Panel ( test code X047) includes 5 genes and regions of interest. LAD-I is the most common type of LAD, caused by pathogenic variants in ITGB2, the gene that encodes β subunit of the β2 integrins. The rare LAD-II disease is caused by pathogenic variants in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. LAD-III is caused by mutations in FERMT3, encoding the kindling-3 protein. For completeness we also included Rac2 and CALDAG-GEFI.