40475-6
WFS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP35580-7 WFS1 gene
The WFS1 gene (Wolfram syndrome 1 (wolframin)) [HGNC Gene ID:12762] is located on chromosome 4p16.1. This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:7466]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- WFS1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- WFS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- WFS1 gene Mut Anl Bld/T
- Display Name
- WFS1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- WFS1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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 WFS1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen WFS1: |
| fr-FR | French (France) | WFS1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | WFS1, gene analisi di mutazione mirata: Synonyms: Gene WFS1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | WFS1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | WFS1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted WFS1 gen |
| pt-BR | Portuguese (Brazil) | WFS1 análise de mutação genética: Synonyms: DFNA14; |
| ru-RU | Russian (Russian Federation) | WFS1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | WFS1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | WFS1 基因 突变分析: Synonyms: DFNA14; |
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=40475-6
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://