105938-5
LaboratoryDPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method
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.
LOINC 6-Axis Classification
Component
DPYD gene.c.1236G>A
Property
PrThr
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Ord
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
DPYD gene.c.1236G>A Bld/T Ql
Display Name
DPYD gene.c.1236G>A Molgen Ql (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 105938-5?
LOINC code 105938-5 identifies "DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method". 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.
What does 105938-5 measure?
This code measures DPYD gene.c.1236G>A in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.