Version 2.78

Part Description

LP36885-9   DPYD gene
The DPYD gene (dihydropyrimidine dehydrogenase) [HGNC Gene ID:3012] is located on chromosome 1 at position p22. The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] [NCBI Gene ID:1806] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
DPYD gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
DPYD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
DPYD gene Mut Anl Bld/T
Display Name
DPYD gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DPYD gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
8709

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: DPYD Mutationsanalyse
es-ES Spanish (Spain) Gen DPYD Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen DPYD:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) DPYD gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DPYD, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene DPYD Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DPYD-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: DPYD gen molgen targeted
pt-BR Portuguese (Brazil) DPYD análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: DPD; DHP; DHPDHase; Dihydropyrimidine dehydrogenase gene; Dihydrothymine dehydrogenase gene; Dihydrouracil dehydrogenase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) DPYD ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DPYD geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DPYD 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DHP;DHPDHase;DPD;二氢嘧啶脱氢酶基因;二氢尿嘧啶脱氢酶基因;二氢胸腺嘧啶脱氢酶基因 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 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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=45284-7