IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, OCA2
Definition : Molecular assay reagents intended to identify deletions in the oculocutaneous albinism II (OCA2) gene, located in 15q11.2-q12, these genes are involved in producing a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. When associated with Angelman's and Prader-Willi syndromes, clinical effects are a result of the deletion of one copy of OCA2 and a mutation in the other copy of OCA2.
Entry Terms : "Albinism Diagnostic Reagents" , "Brown Oculocutaneous Albinism Diagnostic Reagents" , "OCA2 Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, OCA2"
UMDC code : 24188