Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TPP1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TPP1

Definition : Molecular assay reagents intended to identify mutations in the thiopurine S-methyltransferase (TPMT) gene, located at chromosome 6p22.3, which encodes for an enzyme that metabolizes thiopurine drugs. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. This genetic mutation has been identified in patients with thiopurine S-methyltransferase deficiency.

Entry Terms : "Tpp1-Related Neuronal Ceroid-Lipofuscinoses Gene Mutation Reagents" , "Neuronal Ceroid-Lipofuscinoses (NCL) Gene Mutation Reagents" , "Ceroid Lipofuscinosis Gene Mutation Reagents" , "TPP1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TPP1"

UMDC code : 24996

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