DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method 105938-5
LOINC Code
LOINC code | 105938-5 | ||
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name | DPYD gene.c.1236G>A [Presence] in Blood or Tissue by Molecular genetics method | ||
description | 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. | ||
status | ACTIVE | ||
Fully-Specified Name | |||
component | DPYD gene.c.1236G>A | ||
property | PrThr = Present or threshold: The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold. | ||
time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
scale | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
short name | DPYD gene.c.1236G>A Bld/T Ql | ||
Basic Attributes | |||
class | MOLPATH.MUT | ||
type | 1 Laboratory | ||
order vs. observation | Both | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
first released | |||
last updated | 2.78 | ||
last change type | ADD - added | ||
Related Names | |||
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