TPMT gene.c.238G C 460G A 719A G:Prid:Pt:Bld/Tiss:Nar:Molgen

Preferred Label : TPMT gene.c.238G C 460G A 719A G:Prid:Pt:Bld/Tiss:Nar:Molgen;

LOINC status : ACTIVE;

LOINC display name : TPMT gene c.238G C 460G A 719A G Molgen Nar (Bld/Tiss);

LOINC long common name : TPMT gene c.238G C 460G A 719A G [Identifier] in Blood or Tissue by Molecular genetics method Narrative;

LOINC short name : TPMT c.238G C 460G A 719A G Bld/T;

LOINC description : 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.;

Details

Origin ID

71356-0;

UMLS CUI

C3483633;

Has component
- Gene [LOINC component]
- TPMT gene [LOINC component]
- TPMT gene c.238G>C [LOINC component]
- TPMT gene c.238G>C+460G>A+719A>G [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Identity [LOINC Property]
Has scale
- Nar [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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