IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SPTLC1
Definition : Molecular assay reagents intended to identify mutations in the serine palmitoyltransferase, long chain base subunit 1 (SPTLC1) gene, located at chromosome 9q22.1-q22.3, which encodes for a subunit of the primary enzyme responsible for sphingolipid synthesis. This inherited genetic mutation has been identified in patients with hereditary sensory neuropathy type 1 (HSN1).
Entry Terms : "Hereditary Sensory Radicular Neuropathy Type I Gene Mutation Reagents" , "Hereditary Sensory Neuropathy Type I (HSN1) Gene Mutation Reagents" , "SPTLC1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SPTLC1"
UMDC code : 24981