71356-0LOINC 2.82
TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative
TPMT c.238G>C+460G>A+719A>G Bld/T
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.
Component
- TPMT gene.c.238G>C+460G>A+719A>G
Specimen / system
- Bld/Tiss
Class
- MOLPATH.PHARMG
Property
- Prid
Scale
- Nar
Method
- Molgen
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
Index terms
- A+719A>
- Blood
- C
- C+460G>
- G
- 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>
- TPMT gene.c.238G>C+460G>A+719A>G
- WB
- Whole blood
- Whole blood or Tissue