45327-4
FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
Active
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]
Source: National Center for Biotechnology Information (NCBI) Gene
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)
- Consumer Name Alpha Get Info
- FMR1 gene targeted mutation analysis, Amniotic fluid
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 11254
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 FMR1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FMR1: |
| fr-CA | French (Canada) | Gène FMR1 ciblé, analyse de la mutation: |
| fr-FR | French (France) | FMR1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FMR1, gene analisi di mutazione mirata: Synonyms: Gene FMR1 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | FMR1-gen doelgerichte mutatie-analyse: Synonyms: FMR1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FMR1 análise de mutação genética: Synonyms: Fragile X syndrome; |
| ru-RU | Russian (Russian Federation) | FMR1 ген исследование на мутацию: Synonyms: Амниотическая жидкость Документ Точка во времени; |
| tr-TR | Turkish (Turkey) | FMR1 geni Mutasyon analizi: Synonyms: Amniyon mayii |
| zh-CN | Chinese (China) | FMR1 基因 突变分析: Synonyms: 临床文档型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=45327-4
LOINC Copyright
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