Version 2.80

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

LP185368-0   AIP gene
Mutations in the AIP gene cause 15 to 25 percent of cases of familial isolated pituitary adenoma (FIPA), an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). Many kinds of mutations in the AIP gene have been identified, some of which lead to an abnormally short protein or no protein at all. Other mutations change single protein building blocks (amino acids) in AIP. Mutations in the AIP gene are found in a small percentage of individuals with sporadic macroadenomas, which are large (macro-) pituitary adenomas that occur in individuals with no history of the condition in their family. Source: Genetic Home Reference, National Library of Medicine , AIP gene

LP185368-0   AIP gene
The AIP gene (aryl hydrocarbon receptor interacting protein) [HGNC Gene ID:358] is located on chromosome 11q13.3. The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] [NCBI Gene ID:9049] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66 (MAJ)
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
el-GR Greek (Greece) Γονίδιο AIP πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο AIP Εύρεση
es-ES Spanish (Spain) Gen AIP Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen AIP:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) AIP gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) AIP, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) AIP-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: AIP gen
tr-TR Turkish (Turkey) AIP geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) AIP 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: Aryl hydrocarbon receptor-interacting protein (AIP) gene;AH receptor-芳香烃受体相互作用蛋白基因;芳烃受体相互作用蛋白基因;芳香烃受体相互作用蛋白酶基因;芳烃受体结合蛋白基因;AIP 蛋白基因;interacting protein (AIP) gene;aryl-hydrocarbon receptor-interacting protein, immunophilin homolog ARA9 gene;乙型肝炎病毒 X 相关蛋白 2 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.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 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=75395-4