49735-4
FBN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP35579-9 FBN1 gene
The FBN1 gene (fibrillin 1) [HGNC Gene ID:3603] is located on chromosome 15q21.1. This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2200]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FBN1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- FBN1 gene Mut Anl Bld/T
- Display Name
- FBN1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- FBN1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.22
- 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
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen FBN1 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FBN1: |
fr-FR | French (France) | FBN1 gène mutation cible trouvée: |
it-IT | Italian (Italy) | FBN1, gene analisi di mutazione mirata: Synonyms: Gene FBN1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | FBN1-gen doelgerichte mutatie-analyse: Synonyms: FBN1 gen molgen targeted |
pt-BR | Portuguese (Brazil) | FBN1 análise de mutação genética: Synonyms: FBN; |
ru-RU | Russian (Russian Federation) | FBN1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | FBN1 geni Mutasyon analizi: |
zh-CN | Chinese (China) | FB1 基因 突变分析: Synonyms: FBN; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=49735-4
LOINC Copyright
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