Version 2.78

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
Prid
Time
Pt
System
Colorectal cancer specimen
Scale
Nom
Method
Molgen

Additional Names

Short Name
PTEN gene Mut Anl CRC spec
Display Name
PTEN gene targeted mutation analysis Molgen Nom (Colorectal cancer specimen)
Consumer Name Alpha Get Info
PTEN gene targeted mutation analysis, Colorectal cancer specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.61
Last Updated
Version 2.63
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
85905-8 Cancer pathology panel - Colorectal cancer specimen by CAP cancer protocols

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PTEN Analisis de mutaciones:Presencia o identidad:Punto temporal:Cáncer colorectal:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen PTEN:Presencia o identidad:Punto temporal:Muestra de cáncer colorrectal:Nominal:Genética molecular
fr-FR French (France) PTEN gène mutation cible trouvée:Identification:Ponctuel:Tissu cancer colorectal:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) PTEN, gene analisi di mutazione mirata:Prid:Pt:Campione di carcinoma del colon-retto:Nom:Molgen
Synonyms: Campione di tumore Gene PTEN Genetica molecolare Mutazione genica Neoplasia maligna Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
zh-CN Chinese (China) PTEN 基因 突变分析:存在与否或特征标识:时间点:结直肠癌标本:名义型: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) 供检查用的材料;待检物;待试验物;样品;样本;试料;试样 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 受检物 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 样品 样本 癌 癌（癌症、癌变）标本（样本、样品、试样） 结直肠癌（结肠直肠癌、大肠癌、大肠直肠癌）标本（样本、样品、试样）;结肠直肠癌标本;大肠癌标本;大肠直肠癌标本 试样 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85506-4