IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, NSD1
Definition : Molecular assay reagents intended to identify deletions in the nuclear receptor binding SET domain protein 1 (NSD1) gene, located in 5q35.2-q35.3, which encodes for a protein whose exact function is unknown. Inherited genetic deletions are present in most patients with Sotos and Weaver syndromes.
Entry Terms : "Cerebral Gigantism Diagnostic Reagents" , "Sotos Syndrome Diagnostic Reagents" , "SND1 Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, NSD1"
UMDC code : 24187