Version 2.78

Fully-Specified Name

Component
GBA gene.c.1297G>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
GBA c.1297G>T Bld/T Ql
Display Name
GBA gene c.1297G>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
GBA gene c.1297G>T, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.56
Change Reason
Term was erroneous. Updated Component part to describe mutation at coding level and harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-ES Spanish (Spain) Gen GBA c.1297G>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen GBA c.1297G> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) GBA gène mutation c.1297G>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) GBA, gene.c.1297G>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene GBA Gene GBA.c.1297G>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) GBA유전자.g.G1297T:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) GBA-gen.c.1297G>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: GBA gen GBA gen.c.1297G>T molgen
pt-BR Portuguese (Brazil) GBA gene.g.G1297T:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; GBA g.G1297T; Gaucher disease; Glucocerebrosidase gene; GBA1 (LL); GC (SP); GLUC (LL); Beta glucosidase gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) GBA ген.c.1297G>T:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) GBA geni.c.1297G>T:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) GBA 基因.c.1297G>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Beta 葡糖苷酶基因;Gaucher 氏病;Gaucher 病;Gauchers 氏病;Gauchers 病;GBA1 (LL);GC (SP);GLUC (LL);β葡糖苷酶基因;戈谢氏病;戈谢病;葡糖脑苷脂酶基因;高雪氏症;高雪病;高雪症 C 型;丙;丙型 GBA g.G1297T 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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=35687-3