41108-2
FGF23 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP35570-8 FGF23 gene
The FGF23 gene (fibroblast growth factor 23) [HGNC Gene ID:3680] is located on chromosome 12p13.3. This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013] [NCBI Gene ID:8074]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FGF23 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FGF23 gene Mut Anl Bld/T
- Display Name
- FGF23 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FGF23 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen FGF23 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FGF23: |
fr-FR | French (France) | FGF23 gène mutation cible trouvée: |
it-IT | Italian (Italy) | FGF23, gene analisi di mutazione mirata: Synonyms: Gene FGF23 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | FGF23 유전자 돌연변이 분석: |
nl-NL | Dutch (Netherlands) | FGF23-gen doelgerichte mutatie-analyse: Synonyms: FGF23 gen molgen targeted |
pt-BR | Portuguese (Brazil) | FGF23 análise de mutação genética: Synonyms: Fibroblast growth factor 23; |
ru-RU | Russian (Russian Federation) | FGF23 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | FGF23 geni Mutasyon analizi: |
zh-CN | Chinese (China) | FGF23 基因 突变分析: Synonyms: ADHR; |
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=41108-2
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright