Version 2.77

Part Description

LP420050-9   TERT gene promotor region
The TERT gene [HGNC Gene ID: 11730] located on chromosome 5 at position p15.33 encodes the catalytic subunit of telomerase, which regulates telomere length. Mutations in the TERT gene are associated with various conditions, including dyskeratosis congenita, idiopathic pulmonary fibrosis, breast cancer, cholangiocarcinoma, and melanoma. [MedlinePlus Gene: TERT] In cancers, the mutations cause an increase in telomerase activity which contributes to tumorigenesis. In central nervous system (CNS) tumors, including oligodendrogliomas, glioblastomas, haemangiopericytomas and medulloblastomas, the presence of somatic mutations in the TERT promoter region have primarily been identified. PMID: 23530248 Source: Regenstrief LOINC

Fully-Specified Name

Component
TERT gene promotor region targeted mutation analysis
Property
Find
Time
Pt
System
Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
TERT promotor region Mut Anl Tiss
Display Name
TERT gene promotor region targeted mutation analysis Molgen Doc (Tiss)
Consumer Name Alpha Get Info
TERT gene promotor region targeted mutation analysis, Tissue

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Región promotora del gen TERT Analisis de mutaciones:Hallazgo:Punto temporal:Tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas a la región promotora del gen TERT:Hallazgo:Punto temporal:Tejido y frotis:Documento:Genética molecular
fr-FR French (France) TERT gène mutation ciblée sur région promoteur:Recherche:Ponctuel:Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Gene promotore TERT, regione analisi di mutazione mirata:Osservazione:Pt:Tessuto:Doc:Molgen
Synonyms: Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Regione gene promotore TERT Tessuto & Strisci
nl-NL Dutch (Netherlands) TERT-gen promotorregio doelgerichte mutatie-analyse:bevinding:moment:weefsel en uitstrijkjes:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) TERT 基因启动子区 突变分析:发现:时间点:组织与涂片:文档型:分子遗传学类实验室方法
Synonyms: TERT 基因启动子区域;端粒酶逆转录酶基因启动子区;Telomerase Reverse Transcriptase gene promotor region 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 区;地区;局部 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=95778-7