21727-3

PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP19757-1 PMP22 gene
The PMP22 gene (peripheral myelin protein 22) [HGNC Gene ID:9118] is located on chromosome 17p12. This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] [NCBI Gene ID:5376] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: PMP22 gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Long Common Name: PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: PMP22 gene Mut Anl Bld/T
Display Name: PMP22 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: PMP22 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 1.0m
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.
Order vs. Observation: Both
Common Test Rank Get Info: 10803

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο PMP22 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: Prid
es-AR	Spanish (Argentina)	análisis de mutación del gen PMP22:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen PMP22 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen PMP22:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	PMP22 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	PMP22, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene PMP22 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)	PMP22 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	PMP22-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen PMP22 gen targeted
pt-BR	Portuguese (Brazil)	PMP22 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Growth arrest specific gene 3; GAS3; Hereditary neuropathy with liAcility to pressure palsies; Charcot-Marie Tooth disease; CMT; Dejerine-Sottas syndrome; CMT1A; HNPP; Sp110; Peripheral myelin protein 22; PMP-22; 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)	PMP22 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)	PMP22 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	PMP22 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: Charcot-Marie-Tooth 病;CMT;CMT1A;Dejerine-Sottas 综合征;GAS3;HNPP;PMP-22;Sp110;外周髓鞘蛋白 22;易压迫性麻痹之遗传性神经病变;生长停滞特异性基因 3;腓骨肌萎缩症;遗传性压力敏感性周围神经病;遗传性压力易感性神经病变;遗传性压迫易感性神经病全血或组织;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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