Version 2.78

Term Description

The quantification of NPM1 mutation A (c.956dupTCTG) transcripts are compared to a control gene (e.g. ABL1) by real-time PCR (RT-qPCR). NPM1 primers and probes spanning exons 11 and 12 may be used to detect quantify the NPM1 mutation transcripts. Results are based on the normalized copy number [NPM1 mut D copy number/ABL1 copy number) x 100]. This test is based on, but not limited to, IPSOGEN'S NPM1-A MutaQuant Kit, which is used as research tool (as of 2012) for the quantification of NPM1 transcripts in samples previously identified as carrying the NPM1 mutation A. The results are used to monitor the decrease of NPM1 mutA expression after treatment.
Source: Regenstrief LOINC

Fully-Specified Name

Component
NPM1 gene.c.956dupTCTG transcript/control transcript
Property
NRto
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Long Common Name
NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
Short Name
NPM1 gene mut A/control Bld/T
Display Name
NPM1 gene c.956dupTCTG transcript/control transcript Molgen (Bld/Tiss) [# ratio]
Consumer Name Alpha Get Info
NPM1 gene c.956dupTCTG transcript/control Transcript, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
4146

Formula (Readable)

NCN = (CN NPM1 mut A/CN ABL) x 100 where NCN= normalized copy number CN = copy number

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: NPM1 Mutationsanalyse qn.
es-ES Spanish (Spain) Transcripción del gen Gen NPM1,c.956dupTCTG/transcrito control:Relación de número:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) NPM1 gene.c.956dupTranscripción de TCTG / transcripción de control:Proporción numérica:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-FR French (France) NPM1 gène mutation c.956dupTCTG transcrit/transcrit de référence:Nombre/Nombre:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) NPM1 c.956dupTCTG, gene, trascritto/trascritto di controllo:NRto:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene NPM1 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Rapporto numerico Sangue Sangue o Tessuto Tessuto & Strisci Trascritto gene NPM1 c.956dupTCTG
nl-NL Dutch (Netherlands) NPM1-gen.c.956dupTCTG transcript/controle transcript:aantalsverhouding:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: molgen NPM1 gen
pt-BR Portuguese (Brazil) NPM1 gene.c.956dupTCTG transcrição/controle de transcrição::Pt:Sg/Tecido:Qn:Genética molecular
ru-RU Russian (Russian Federation) NPM1 ген.c.956dupTCTG транскрипт/контрольный транскрипт:КолОтн:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественное отношение Количественный Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) NPM1 geni.c.956dupTCTG transkript/kontrol transkripti:SayOr:Zmlı:Kan/Dk:Kant:Molgen
zh-CN Chinese (China) NPM1 基因.c.956dupTCTG 转录物/对照转录物:计数型比率:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: B23;MGC104254;NPM;nucleolar phosphoprotein B23;nucleophosmin 1;nucleophosmin/nucleoplasmin family, member 1;numatrin;nucleophosmin (nucleolar phosphoprotein B23, numatrin);核仁磷蛋白 B23;核仁磷酸化蛋白 B23;核磷蛋白 1;核磷蛋白/核磷蛋白家族, 成员1;numatrin;核磷蛋白 (核仁磷蛋白 B23, numatrin, N C 型;丙;丙型 NPM NPM1 基因.c.956dupTCTG 转录物（转录本、转录产物、转录子、转录）;NPM1 基因.c.956dupTCTG 转录;NPM1 基因.c.956dupTCTG 转录物 Numatrin 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 同一样本内两种不同实体的数量之比;数量型比;数量型比值;数量型比率;数量或计数型比;数量或计数型比值;计数型比;计数型比值;数量或计数型比率 对照转录物（转录本、转录产物、转录子、转录）;对照基因转录本;控制转录本 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 核仁磷朊 b23 核仁磷蛋白 b23 核仁磷蛋白 b23（Nucleolar phosphoprotein b23，B23） 核仁磷蛋白 b23（Nucleophosmin，NPM，B23，Numatrin，NO38） 核仁磷酸化蛋白 核磷蛋白 核磷蛋白 1 核磷蛋白 1（Nucleophosmin，NPM，B23，N38，Numatrin） 核磷蛋白（Nuclear phosphoprotein，NPM） 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit Source
% Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72311-4