Version 2.77

Term Description

Testing includes full sequencing of the RET gene, including all exons 1-20, to identify pathogenic or likely pathogenic mutations associated with various conditions, including multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome.[GHR gene:RET]
Source: Regenstrief LOINC

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

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 full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Short Name
RET gene Full Mut Anl Bld/T Seq
Display Name
RET gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
RET gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
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) Gen RET Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen RET:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) RET gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) RET, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene RET Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) RET-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: RET gen
tr-TR Turkish (Turkey) RET geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) RET 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 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 完整突变分析;综合突变分析 序列分析;测序 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94224-3