Version 2.78

Part Description

LP157499-7   UGT1A1 gene.c.A(TA)7TAA(*28)
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.c.A(TA)7TAA(*28)
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
UGT1A1*28 Bld/T Ql
Display Name
UGT1A1 gene c.A(TA)7TAA(*28) Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
UGT1A1 gene c.A(TA)7TAA(*28), Blood or tissue specimen

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.73
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
14927

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) gen UGT1A1.c.A(TA)7TAA(*28):PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen UGT1A1 c. A (TA) 7TAA (* 28):Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) UGT1A1 gène mutation c.A(TA)7TAA(*28):Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) UGT1A1, gene.c.A(TA)7TAA(*28):PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene UGT1A1 Gene UGT1A1 c.A(TA)7TAA(*28) Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) UGT1A1-gen.c.A(TA)7TAA(*28):aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen UGT1A1 gen
pt-BR Portuguese (Brazil) UGT1A1 gene.c.A(TA)7TAA(*28)::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) UGT1A1 ген.c.A(TA)7TAA(*28):PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) UGT1A1 geni.c.A(TA)7TAA(*28):MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) UGT1A1 基因.c.A(TA)7TAA(*28):存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: A 型 C 型;丙;丙型 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 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72508-5