IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, PAX6
Definition : Molecular assay reagents intended to identify deletions in the paired box gene 6 (PAX6) gene, located in 11p13, which encodes for a transcriptional regulator involved in oculogenesis and other development processes; the gene is expressed in the eye and brain. Inherited genetic deletions are present in patients with isolated aniridia; deletions involving both the PAX6 gene and the adjacent WT1 locus are present in patients with WAGR syndrome, which includes Wilms' tumor, aniridia/genital abnormalities, and developmental disabilities.
Entry Terms : "Wilms Tumor-Aniridia-Genital Anomalies Retardation (WAGR) Syndrome Diagnostic Reagents" , "Isolated Aniridia Disease Diagnostic Reagents" , "PAX6 Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, PAX6"
UMDC code : 24189