TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative   71356-0

LOINC Code


LOINC code71356-0
nameTPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative
descriptionThree main genetic polymorphisms [c.238G>C (rs1800462), c.460G>A (rs1800460), and c.719A>G (rs16880254)] in the TPMT gene alter metabolization efficiency of the thiopurines in 80-95% of patients. Patients with average TPMT activity are heterozygous for these genetic changes. Patients with deficient enzyme activity are homozygous for these polymorphisms. This code was created for, but not limited to, Asper Biotech's Thiopurine S-Methyltransferase Deficiency - TPMT test.
statusACTIVE

Fully-Specified Name

componentTPMT gene.c.238G>C+460G>A+719A>G
propertyPrid  =  Presence or identity:  Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleNar  =  Narrative:  Text narrative, such as the description of a microscopic part of a surgical papule test.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameTPMT c.238G>C+460G>A+719A>G Bld/T

Basic Attributes

classMOLPATH.PHARMG
type1  Laboratory
order vs. observationBoth

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 updated2.67
last change typeMIN  - change to field other than name
change reasonRelease 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.

Related Names

Blood
Genetics
Heredity
Heritable
Identity or presence
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.PHARMG
Narrative
PCR
Point in time
Random
Report
thiopurine S-methyltransferase
Thiopurine S-methyltransferase gene
Tissue
Tissue, unspecified
TPMT c.238G>
C
TPMT c.238G>
C+460G>
A+719A>
G
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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