Version 2.78

Part Descriptions

LP115339-6   CEBPA gene
CCAAT/enhancer-binding protein alpha is a protein that in humans is encoded by the CEBPA gene. The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain promoters and enhancers. It can also form heterodimers with the related proteins CEBP-beta and CEBP-gamma. The encoded protein has been shown to bind to the promoter and modulate the expression of the gene encoding leptin, a protein that plays an important role in body weight homeostasis. Also, the encoded protein can interact with CDK2 and CDK4, thereby inhibiting these kinases and causing growth arrest in cultured cells.
Mutations of the CEBPA gene are a cause of familial AML, and positively correlate with better prognosis Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LP115339-6   CEBPA gene
The CEBPA gene (CCAAT/enhancer binding protein (C/EBP), alpha) [HGNC Gene ID:1833] is located on chromosome 19q13.1. This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013] [NCBI Gene ID:1050] Source: National Center for Biotechnology Information (NCBI) Gene

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

Fully-Specified Name

Component
CEBPA gene full mutation analysis
Property
Find
Time
Pt
System
Bone mar
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
CEBPA gene full mutation analysis in Bone marrow by Sequencing
Short Name
CEBPA gene Full Mut Anl Mar Seq
Display Name
CEBPA gene full mutation analysis Sequencing Doc (BM)
Consumer Name Alpha Get Info
CEBPA gene variant analysis, Bone marrow

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.69
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CEBPA Análisis de mutación completa:Hallazgo:Punto temporal:Médula ósea:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen CEBPA:Hallazgo:Punto temporal:Médula ósea:Documento:Secuenciación
fr-FR French (France) CEBPA gène analyse complète des mutations:Recherche:Ponctuel:Moelle osseuse:Document:Séquençage
it-IT Italian (Italy) CEBPA, gene Analisi di mutazione completa:Osservazione:Pt:Mid oss:Doc:Sequenziamento
Synonyms: Gene CEBPA Midollo osseo Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) CEBPA-gen volledige mutatie-analyse:bevinding:moment:beenmerg:document:sequencing
Synonyms: CEBPA gen
pt-BR Portuguese (Brazil) CEBPA gene análise de mutação completa:Ident:Pt:MedOssea:Nar:Genética molecular
tr-TR Turkish (Turkey) CEBPA geni tam mutasyon analizi:Bulgu:Zmlı:Kem il:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) CEBPA 基因 全面突变分析:发现:时间点:骨髓:文档型:序列测定
Synonyms: CCAAT/增强子结合蛋白α基因;CCAAT/增强子结合蛋白α;CCAAT促效結合蛋白α;CCAAT/enhancer binding protein alpha;C/EBPα 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.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 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 遗传基因;遗传因子;吉恩;生物基因 骨骼;骨头 髓

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75032-3