Version 2.78

Fully-Specified Name

Component
CATCH22 syndrome gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
CATCH22 gene Mut Anl Bld/T
Display Name
CATCH22 syndrome gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CATCH22 syndrome gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
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.; 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
15166

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen del síndrome CATCH22:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES Spanish (Spain) Gen síndrome CATCH22 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen del síndrome CATCH22:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) CATCH22 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) CATCH22, gene sindrome analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene della sindrome di CATCH22 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) CATCH22 증후군 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) CATCH22-syndroomgen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
pt-BR Portuguese (Brazil) Sindrome CATCH22 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; CATCH22 gene; DiGeorge Syndrome; Shprintzen syndrome; DGS; 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) CATCH22 синдром 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) CATCH22 sendromu geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) CATCH22 综合征基因 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: CATCH22综合征（一种以先天性心脏畸形、异常面容、低钙血症、胸腺发育不良等为特征的遗传性疾病,与人类22号染色体长臂1区1带(22q11)的1.5-3 Mb缺失有关,22q11区域中某些基因有可能是致病关键基因）;DGS;DiGeorge 综合征;Shprintzen 综合征;VCFS;Velocardiofacial syndrome;Velo-cardio-facial syndrome;先天性胸腺发育不全;先天性胸腺发育不全综合征;腭心面综合征;腭心面综合征（1978年shprintzen等报道 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34517-3