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  • Molecular assay reagents intended to identify mutations in the DiGeorge syndrome critical region gene 2 (DGCR2) gene, located at chromosome 22q11, which putatively encodes for an adhesion receptor protein that may play a role in neural crest cell migration. This adhesion cell receptor could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration. Mutations at this locus have been identified in patients with a disease characterized by cardiac abnormality, T-cell defect, clefting, and hypocalcaemia (CATCH 22); DiGeorge syndrome; conotruncal anomaly face syndrome; and Shprintzen\'s syndrome (also known as velocardiofacial syndrome).
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