Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PAX3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PAX3

Definition : Molecular assay reagents intended to identify mutations in the paired box gene 3 (PAX3) gene, located at chromosome 2q35-q37, which encodes for a transcription factor. Mutations at this locus have been identified in patients with Waardenburg's syndrome type 1 (WS1), a disease characterized by partial albinism and severe hearing loss or deafness, and Waardenburg's syndrome type 3 (Klein-Waardenburg syndrome) and craniofacial-deafness-hand syndrome (CDHS).

Entry Terms : "Craniofacial-Deafness-Hand Syndrome (CDHS) Gene Mutation Reagents" , "Klein-Waardenburg Syndrome (KWS) Gene Mutation Reagents" , "Waardenburg Syndrome Type 3 (WS3) Gene Mutation Reagents" , "Waardenburg Syndrome Type 1 (WS1) Gene Mutation Reagents" , "PAX3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PAX3"

UMDC code : 24653

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