Version 2.78

Part Description

LP19747-2   NF1 gene
The NF1 gene (neurofibromin 1) [HGNC Gene ID:7765] is located on chromosome 17q11.2. This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4763] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
NF1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Amnio fld
Scale
Nom
Method
Molgen

Additional Names

Short Name
NF1 gene Mut Anl Amn
Display Name
NF1 gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha Get Info
NF1 gene targeted mutation analysis, Amniotic fluid

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.63
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

Member of these Panels

LOINC Long Common Name
54037-7 HEDIS 2009 panel
57820-3 HEDIS 2010 panel
60442-1 HEDIS 2011 panel
67767-4 HEDIS 2012 panel
72199-3 HEDIS 2013 panel
74234-6 HEDIS 2014 Value Sets

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen NF1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen NF1:Presencia o identidad:Punto temporal:Líquido amniótico:Nominal:Genética molecular
fr-FR French (France) NF1 gène mutation cible trouvée:Identification:Ponctuel:Liquide amniotique:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) NF1, gene analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
Synonyms: Gene NF1 Genetica molecolare Liquido amniotico Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) NF1-gen doelgerichte mutatie-analyse:identificator:moment:vruchtwater:nominaal:moleculair genetisch onderzoek
Synonyms: molgen NF1 gen targeted
pt-BR Portuguese (Brazil) NF1 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
Synonyms: NFNS; VRNF; WSS; Neurofibromin 1; Neurofibromatosis; von Recklinghausen disease; Watson disease; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) NF1 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
Synonyms: Амниотическая жидкость Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) NF1 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) NF1 基因 突变分析:存在与否或特征标识:时间点:羊水:名义型:分子遗传学类实验室方法
Synonyms: WSS;多发性神经纤维瘤;多发性神经纤维瘤病;沃森病;神经纤维瘤;神经纤维瘤病;神经纤维瘤蛋白 1;神经纤维瘤蛋白 1 (Neurofibromin 1);神经纤维蛋白 1;神经纤维蛋白 1 (Neurofibromin 1);范-瑞克林豪森氏病;雷克林霍森氏病;Neurofibromin 1;NFNS;von Recklinghausen 氏病;von Recklinghausen 病;Von Recklinghausen 综合征;VRNF;Watson 病 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 羊膜水;胎水 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=45331-6