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.

LOINC Names Get Info

Fully-Specified Name: CTNS related multigene analysis:Prid:Pt:Body fld+Ser/Plas:Nom:Molgen
Long Common Name: CTNS related multigene analysis [Identifier] in Bodyfluid and Serum or Plasma by Molecular genetics method Nominal
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

Part Model Get Info

Component
CTNS related multigene analysis
LP432652-8
- Analyte
  CTNS related multigene analysis
  LP432652-8
  - Component Numerator
    CTNS related multigene analysis
    LP432652-8
    - Component Numerator Core
      CTNS related multigene analysis
      LP432652-8
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Body fld+Ser/Plas
LP65002-5
- System Core
  Body fld+Ser/Plas
  LP65002-5
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

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 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Onemocnění asociované s genem CTNS multigenová analýza:Přítomnost nebo identita:Časový bod:Tělní tekutina a sérum/plazma:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Πολυγονιδιακή ανάλυση που σχετίζεται με το γονίδιο CTNS:Prid:Pt:Σωματικό υγρό+Ορός/Πλάσμα:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Μοριακή γενετική Ορός Ορός/Πλάσμα Πλάσμα Πολυγονιδιακή ανάλυση που σχετίζεται με το γονίδιο CTNS Σωματικό υγρό Σωματικό υγρό+Ορός/Πλάσμα
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 multigenica 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
pl-PL	Polish (Poland)	Analiza wielogenowa związana z CTNS:obecność lub identyfikacja:punkt w czasie:płyn ustrojowy i surowica lub osocze:skala nominalna:genetyka molekularna Synonyms: Analiza wielogenowa w kierunku cystynozy diagnostyka molekularna wynik kategorialny
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

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100696-4

Third Party Copyright

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LOINC Copyright

Copyright © 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://loinc.org/license for the full LOINC copyright and license.