UGT1A1 gene.TA repeats:Geno:Pt:Bld/Tiss:Nom:Molgen

Preferred Label : UGT1A1 gene.TA repeats:Geno:Pt:Bld/Tiss:Nom:Molgen;

LOINC status : ACTIVE;

LOINC display name : UGT1A1 gene TA repeats genotype Molgen (Bld/Tiss);

LOINC long common name : UGT1A1 gene TA repeats [Genotype] in Blood or Tissue by Molecular genetics method Nominal;

LOINC short name : UGT1A1 TA Geno Bld/T;

LOINC description : The patient's genotype (e.g. TA5/TA7) for the TA repeat variant within the UGT1A1 gene. Variants include TA5 or *36: c. 41_-40delTA (g.234668893_234668894), TA7 or *28: c. 41_-40dupTA (g.234668893_234668894), and TA8 or *37: c. 43_-40dupTATA (g. 234668891_234668894). Testing is performed to screen for variants associated with increased risk of adverse drug reactions when taking UGT1A1-metabolized drugs, including pazopanib, nilotinib, atazanavir, and belinostat. Patient's homozygosity for the TA7 promoter variant (*28) have reduced UGT1A1 activity (about 30% to 50%) compared to normal.[PMID: 7565971];

Details

Origin ID

95143-4;

UMLS CUI

C5381647;

Has component
- Gene [LOINC component]
- UGT1A1 gene [LOINC component]
- UGT1A1 gene TA repeats [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Genotype [LOINC Property]
Has scale
- Nom [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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