100696-4

CTNS related multigene analysis [Identifier] in Bodyfluid and Serum or Plasma by Molecular genetics method Nominal

Active

Term Description

This test is to identify disease causing variants in genes associated with chronic kidney disease.
Source: Regenstrief LOINC

Fully-Specified Name

Component: CTNS related multigene analysis
Property: Prid
Time: Pt
System: Body fld+Ser/Plas
Scale: Nom
Method: Molgen

Additional Names

Short Name: CTNS multigene anal Fld+SerPl
Display Name: CTNS related multigene analysis Molgen Nom (Body fld+S/P)
Consumer Name Alpha Get Info: CTNS related multigene analysis, Body Fld+S/P

Example Answer List: LL360-9

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.73
Last Updated: Version 2.73
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Análisis multigénico relacionado con la CTNS:Presencia o identidad:Punto temporal:Suero o plasma y líquido corporal:Nom:Genética molecular
fr-FR	French (France)	Analyse multigénique en relation avec le CTNS:Identification:Ponctuel:Liquide biologique+Sérum/Plasma:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	Analisi multigene correlata al CTNS:Prid:Pt:Siero/Plasma+Liquido corporeo:Nom:Molgen Synonyms: Genetica molecolare Liquido corporeo Mutazione genica Patologia molecolare Plasma Presenza o Identità Punto nel tempo (episodio) Siero Siero o Plasma Siero o Plasma & Liquido corporeo
nl-NL	Dutch (Netherlands)	CTNS-gerelateerde multigen-analyse:identificator:moment:lichaamsvloeistof en serum of plasma:nominaal:moleculair genetisch onderzoek Synonyms: cystinosine molgen
zh-CN	Chinese (China)	CTNS 相关多基因分析:存在与否或特征标识:时间点:体液+血清/血浆:名义型:分子遗传学类实验室方法 Synonyms: CTNS（Cystinosin, Lysosomal Cystine Transporter、胱氨酸，溶酶体胱氨酸转运体、胱氨酸，溶酶体胱氨酸转运蛋白）相关多基因分析体液+血清或血浆分子病理学.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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间物体血清或血浆

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