LOINC
Version 2.68

45327-4FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics methodActive

Part Description

LP33555-1   FMR1 gene
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332] 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

Fully-Specified Name

Component
FMR1 gene targeted mutation analysis
Property
Find
Time
Pt
System
Amnio fld
Scale
Doc
Method
Molgen

Additional Names

Short Name
FMR1 gene Mut Anl Amn
Display Name
FMR1 gene targeted mutation analysis Molgen Doc (Amn fld)

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.66
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.; 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

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)
FMR1 基因 突变分析:发现:时间点:羊水:文档型:分子遗传学类实验室方法
nl-NLDutch (NETHERLANDS)
FMR1-gen mutatie-analyse:bevinding:moment:vruchtwater:document:moleculair genetisch onderzoek
fr-CAFrench (CANADA)
Gène FMR1 ciblé, analyse de la mutation:Observation:Temps ponctuel:Liquide amniotique:Document:Molgen
fr-FRFrench (FRANCE)
FMR1 gène mutation cible trouvée:Identification:Ponctuel:Liquide amniotique:Résultat textuel:Biologie moléculaire
it-ITItalian (ITALY)
FMR1, gene , analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
pt-BRPortuguese (BRAZIL)
FMR1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecular
ru-RURussian (RUSSIAN FEDERATION)
FMR1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
es-ESSpanish (SPAIN)
Gen FMR1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
tr-TRTurkish (TURKEY)
FMR1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=45327-4