21722-4

OTC gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP19751-4 OTC gene
The OTC gene (ornithine carbamoyltransferase) [HGNC Gene ID:8512] is located on chromosome Xp21.1. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5009] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: OTC gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: OTC gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: OTC gene Mut Tested Bld/T
Display Name: OTC gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: OTC gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
OTC gene mutations tested for
LP229167-4
- Analyte
  OTC gene mutations tested for
  LP229167-4
  - Component Numerator
    OTC gene mutations tested for
    LP229167-4
    - Component Numerator Core
      OTC gene
      LP19751-4
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - 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
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 1.0m
Last Updated: Version 2.13 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen OTC testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο OTC εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο OTC εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-AR	Spanish (Argentina)	determinación de mutaciones del gen OTC:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen OTC Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones genéticas de venta libre probadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	OTC gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	OTC, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene OTC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR	Korean (Korea, Republic Of)	OTC 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	OTC-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen OTC gen
pl-PL	Polish (Poland)	OTC gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen OTC wynik kategorialny
pt-BR	Portuguese (Brazil)	OTC teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Ornithine transcarbamylase deficiency; Ornithine carbamoyltransferase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Over-the-counter; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	OTC ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	OTC geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	OTC 基因已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: OTC 缺乏病;OTC 缺乏症;鸟氨酸氨基甲酰转移酶（ornithine transcarbamylase, OTC）缺乏症;鸟氨酸氨基甲酰转移酶基因;鸟氨酸氨基甲酰转移酶缺乏症全血或组织;血液/组织;血液或组织分子病理学.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;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

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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.