Version 2.77

Part Description

LP429598-8   SLC12A1 gene
The SLC12A1 gene (solute carrier family 12 member 1) [HGNC Gene ID:10910] is located on chromosome 15q21.1. The protein encoded by this gene is a sodium-potassium-chloride cotransporter that is expressed on renal epithelial cells. This cotransporter is responsible for most of the kidney's NaCl resorption. Defects in the gene result in Bartter-like syndromes. [provided by RefSeq, May 2010] [NCBI Gene ID:6557] Source: Regenstrief LOINC

Fully-Specified Name

Component
SLC12A1 gene full mutation analysis
Property
Find
Time
Pt
System
Bld
Scale
Doc
Method
Molgen

Additional Names

Short Name
SLC12A1 Full Mut Anl Bld
Display Name
SLC12A1 gene full mutation analysis Molgen Doc (Bld)
Consumer Name Alpha Get Info
SLC12A1 gene variant analysis, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen SLC12A1 Análisis de mutación completa:Hallazgo:Punto temporal:Sangre:Doc:Genética molecular
fr-FR French (France) SLC12A1 gène analyse complète des mutations:Recherche:Ponctuel:Sang:Document:Biologie moléculaire
it-IT Italian (Italy) SLC12A1, gene Analisi di mutazione completa:Osservazione:Pt:Sangue:Doc:Molgen
Synonyms: Gene SLC12A1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) SLC12A1-gen volledige mutatie-analyse:bevinding:moment:bloed:document:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (China) SLC12A1 基因 全面突变分析:发现:时间点:全血:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 完整突变分析;综合突变分析 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=99057-2