47969-1

PTEN gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP61787-5 PTEN gene
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, also known as phosphate and tensin homolog or PTEN protein, is encoded by the PTEN gene on chromosome10q23.31. PTEN protein has multiple functions, including protein phosphatase and lipid phosphatase activity. The lipid phosphatase function is critical for its role as a tumor suppressor and modulating cell cycle progression and cell survival. It also plays a role in correct neuron positioning, dendritic development and synapse formation, and may be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. Mutations in the PTEN gene are associated with multiple disorders, including PTEN hamartoma tumor syndromes, which include Cowden syndrome and Lhermitte-Duclos disease, squamous cell carcinoma of the head and neck, endometrial carcinoma, prostate cancer, and VACTERL with hydrocephalus. [UniProt: P60484] Loss of the PTEN gene can be determined by various techniques, including FISH, and loss of the PTEN protein can be detected by immunohistochemistry techniques. Source: Regenstrief LOINC , UniProt: P60484

Fully-Specified Name

Component: PTEN gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: PTEN gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: PTEN gene Mut Anl Bld/T
Display Name: PTEN gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: PTEN gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73 (MIN)
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both
Common Test Rank Get Info: 9612

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο PTEN στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο PTEN Εύρεση
es-ES	Spanish (Spain)	Gen PTEN Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen PTEN:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	PTEN gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	PTEN, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene PTEN Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	PTEN-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen PTEN gen targeted
pt-BR	Portuguese (Brazil)	PTEN análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: BZS; MGC11227; MHAM; MMAC1; PTEN1; TEP1; Bannayan-Zonana syndrome; Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds; Mutated in multiple advanced cancers 1; Phosphatase and tensin homolog; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	PTEN ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	PTEN geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	PTEN 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: Bannayan-Zonana 综合征（Bannayan-Zonana syndrome，BZS）;BZS;Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds;MGC11227;MHAM;MMAC1;Mutated in multiple advanced cancers 1;Phosphatase and tensin homolog;PTEN1;TEP1;人类突变于多种进行性癌蛋白 (MMAC1) 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;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;结论基因突变分析时刻;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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LOINC Copyright

Copyright © 2025 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.