AutoICD API

71356-0

Laboratory

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

Definition

Three 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.

LOINC 6-Axis Classification

Component

TPMT gene.c.238G>C+460G>A+719A>G

Property

Prid

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Nar

Method Type

Molgen

Details

Class

MOLPATH.PHARMG

Order/Observation

Both

Short Name

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

Display Name

TPMT gene c.238G>C+460G>A+719A>G Molgen Nar (Bld/Tiss)

Related Names

BloodGeneticsHeredityHeritableIdentity or presenceInheritedMolecular geneticsMolecular pathologyMOLPATHMOLPATH.PHARMGNarrativePCRPoint in timeRandomReportthiopurine S-methyltransferaseThiopurine S-methyltransferase geneTissueTissue, unspecifiedTPMT c.238G&gtCTPMT c.238G&gtC+460G&gtA+719A&gtGWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 71356-0?

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

What does 71356-0 measure?

This code measures TPMT gene.c.238G>C+460G>A+719A>G in Bld/Tiss. It belongs to the MOLPATH.PHARMG 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.