Version 2.78

Term Description

Hirschsprung disease;medullary thyroid carcinoma
Source: Regenstrief LOINC

Part Descriptions

LP19763-9   RET gene
Multiple Endocrine Neoplasia (MEN) is caused by mutations in the RET gene. The RET gene is located on the long arm of chromosome 10 at position 11.2. More than 25 mutations have been identified as causing type 2 MEN. Most of these mutations change a single amino acid in the RET protein. More than 90% of MEN type 2B is caused by the M918T mutation which replaces amino acid methionine with threonine at position 918. MEN2B mutations result in overactive RET protein that can transmit signals without first attaching to growth factors outside the cell. The overactive protein may trigger abnormal cell growth and division, leading to formation of endocrine tumors. MEN2B mutations are found in 100% of the cases of medullary carcinoma of the thyroid and 50% of cases of pheochromocytoma, as well as with mucosal neuromas and Marfanoid body habitus. Information from ARUP Laboratories and Genetics Home Reference@ghr.nlm.nih.gov, accessed 2007 09 25. Source: Regenstrief Institute

LP19763-9   RET gene
The RET gene (ret proto-oncogene) [HGNC Gene ID:9967] is located on chromosome 10q11.2. This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5979] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

Short Name
RET gene Mut Anl Bld/T
Display Name
RET gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
RET gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
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
12356

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen RET Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR Spanish (Argentina) análisis de mutación del gen RET:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen RET:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) RET gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) RET, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene RET Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) RET 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) RET-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen RET gen targeted
pt-BR Portuguese (Brazil) RET análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: C-RET; Multiple endocrine neoplasia type IIa; Multiple endocrine neoplasia type IIb; ret proto-oncogene; CDHF12; HSCR1; MEN2A; MEN2B; MTC1; PTC; 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) RET 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) RET geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) RET 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: CDHF12;C-RET;HSCR1;MEN2A;MEN2B;MTC1;PTC;RET 原癌基因;RET 原致癌基因;多发性内分泌肿瘤 2a 型;多发性内分泌肿瘤 2b 型;多发性内分泌肿瘤 IIa 型;多发性内分泌肿瘤 IIb 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 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

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