21657-2

COL2A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP19687-0 COL2A1 gene
The COL2A1 gene (collagen, type II, alpha 1) [HGNC Gene ID:2200] is located on chromosome 12q13.11. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1280] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: COL2A1 gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Short Name: COL2A1 gene Mut Anl Bld/T
Display Name: COL2A1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: COL2A1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 1.0m
Last Updated: Version 2.63
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

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	análisis de la mutación del gen COL2A1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen COL2A1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen COL2A1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	COL2A1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	COL2A1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene COL2A1 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)	COL2A1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	COL2A1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: COL2A1 gen molgen targeted
pt-BR	Portuguese (Brazil)	COL2A1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Stickler syndrome; Primary osteoarthritis; Spondyloepiphyseal dysplasia; Cartilage collagen gene; SEDC; 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)	COL2A1 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)	COL2A1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	COL2A1 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: SEDC;Stickler 综合征;原发性骨关节炎;史蒂克勒氏症;脊椎骨骺发育;脊椎骨骺发育不良;软骨胶原基因;软骨胶原蛋白基因;遗传性关节眼病;Ⅱ型胶原蛋白基因;II型胶原蛋白基因;ANFH;AOM;COL11A3;MGC131516;SEDC;AOM;COL11A3;MGC131516;SEDC;OTTHUMP00000195063;cartilage collagen;chondrocalcin;collagen II, alpha-1 polypeptide;collagen, type II, 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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