LOINC
Version 2.66

45331-6NF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalActive

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 Beta
NF1 gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha
NF1 gene Variant Analysis, Amniotic Fluid

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] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

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

zh-CNChinese (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
nl-NLDutch (Netherlands)
NF1-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgen
fr-FRFrench (France)
NF1 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:Molgen
it-ITItalian (Italy)
NF1, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
pt-BRPortuguese (Brazil)
NF1 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
ru-RURussian (Russian Federation)
NF1 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
es-ESSpanish (Spain)
Gen NF1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
tr-TRTurkish (Turkey)
NF1 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=45331-6