Version 2.77

Term 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
Source: Regenstrief LOINC

Part Description

LP418235-0   UGT1A1 gene.TA repeats
The presence of an additional TA repeat in the TATA region of the UGT1A1 promoter (ie, 7 TA repeats; UGT1A1*28, rs8175347) markedly reduces the level of hepatic bilirubin UDP-glucuronosyltransferase 1A1 (UGT1A1), the enzyme necessary for the conjugation of bilirubin. Individuals homozygous for the UGT1A1*28 allele develop Gilbert syndrome, a condition characterized by periods of mild unconjugated hyperbilirubinemia. In addition, individuals positive for the UGT1A1*28 allele are more likely to experience severe adverse effects during irinotecan chemotherapy. Identifying a patient's genotype for the UGT1A1 allele helps determine appropriate starting dosages for irinotecan, reducing the risk of severe toxicity and improving overall therapy. Source: Regenstrief LOINC

Fully-Specified Name

Component
UGT1A1 gene.TA repeats
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
UGT1A1 TA Geno Bld/T
Display Name
UGT1A1 gene TA repeats genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
UGT1A1 gene TA Repeats genotype, Blood or tissue specimen

Example Answer List: LL5560-9

Source: Mayo Medical Laboratories
Answer Code Score Answer ID
Homozygous *36 (TA5/TA5) LA30473-5
Heterozygous *36 (TA5/TA6) LA30474-3
Heterozygous *36 and Heterozygous *28 (TA5/TA7) LA30475-0
Heterozygous *28 (TA6/TA7) LA30477-6
Homozygous *28 (TA7/TA7) LA30478-4
Homozygous *37 (TA8/TA8) LA30876-9

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Repeticiones TA del gen UGT1A1:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Repeticiones TA del gen UGT1A1:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) UGT1A1 gène répétitions TA:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) UGT1A1, gene.TA, ripetizioni:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene UGT1A1 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) UGTA1-gen.TA repeats:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen UGT1A1 gen
zh-CN Chinese (China) UGT1A1 基因.TA 重复序列:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Crigler-Najjar 综合征, I 型;Gilbert 综合征;Gilbert 综合征（一种遗传性结合型胆红素水平升高造成胆红素排泄障碍,而肝脏功能正常的综合征,是人类最为常见的综合征类型之一）;GNT1;UDP 糖基转移酶 1 家族, 多肽 A1 基因;UDP 转糖基酶 1 家族, 多肽 A1 基因;UGT1;UGT1A;UGT1A5;二磷酸尿苷糖基转移酶 1 家族, 多肽 A1 基因;二磷酸尿苷转糖基酶 1 家族, 多肽 A1 基因;尿苷二磷酸糖基转移酶 1 家族, 多肽 A1 基因;尿苷二磷 Ma2 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 患有边缘叶脑炎或脑干脑炎的病人可出现 Ta 抗体。有时与小脑功能障碍相关。在男性体内，这些抗体的出现表明，存在某种生殖细胞肿瘤，且通常位于睾丸中。 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

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