36920-7

PROP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP33552-8 PROP1 gene
The PROP1 gene (PROP paired-like homeobox 1) [HGNC Gene ID:9455] is located on chromosome 5q35.3. This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] [NCBI Gene ID:5626] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: PROP1 gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Long Common Name: PROP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: PROP1 gene Mut Anl Bld/T
Display Name: PROP1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: PROP1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73
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.
Order vs. Observation: Both
Common Test Rank Get Info: 7716

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	gen PROP1:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen PROP1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen PROP1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	PROP1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	PROP1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene PROP1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	PROP1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	PROP1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen PROP1 gen targeted
pt-BR	Portuguese (Brazil)	PROP1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Prophet of Pit1, paired-like homeodomain transcription factor; PROP-1; Pituitary specific homeodomain factor; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	PROP1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	PROP1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	PROP1 基因突变分析: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: 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垂体前叶特异性转录因子 (PIT)-1 的祖先蛋白 (PROP)-1;垂体前叶特异性转录因子 Pit1 的祖先蛋白 (Prophet);垂体前叶特异性转录因子 Pit1 的祖先蛋白 PROP-1;垂体特异性同源异型结构域因子;成对样同源异型结构域蛋白转录因子 Pit1 的祖先蛋白 (Prophet) 基因突变分析存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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