105938-5

LOINC 2.82

DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method

DPYD gene.c.1236G>A Bld/T Ql

Definition

  • The c.1236G>A variant of DPYD gene is part of the HapB3 haplotype, which also includes other variants such as c.1129-5923C>G. The c.1236G>A variant is considered a "tagging single nucleotide polymorphism (SNP)" that can identify the HapB3 haplotype. Patients who are heterozygous or homozygous for HapB3 variant are deficient in the DPYD enzyme, leading to increased risk toxicity from fluoropyrimidine chemotherapy drugs.

Component

  • DPYD gene.c.1236G>A

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; DHP; DHPDHase; dihydropyrimidine dehydrogenase; Dihydropyrimidine dehydrogenase gene; Dihydrothymine dehydrogenase gene; Dihydrouracil dehydrogenase gene; DPD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • DHP
  • DHPDHase
  • dihydropyrimidine dehydrogenase
  • Dihydropyrimidine dehydrogenase gene
  • Dihydrothymine dehydrogenase gene
  • Dihydrouracil dehydrogenase gene
  • DPD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue