Leukocyte adhesion deficiency and chemotaxis disorders

The Sanquin Leukocyte adhesion deficiency  NGS Panel (test code X069) includes 5 genes related to Leukocyte adhesion deficiency (LAD).

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 (RASGRP2).