35690-7

GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics method

Active

Term Description

2 possible substitutions

LOINC Names Get Info

Fully-Specified Name: GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name: GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics method
Short Name: GBA c.IVS2+1G>A/T Bld/T Ql
Display Name: GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info: GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T, Blood or tissue specimen

Part Model Get Info

Component
GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
LP33324-2
- Analyte
  GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
  LP33324-2
  - Component Numerator
    GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
    LP33324-2
    - Component Numerator Core
      GBA gene.c.IVS2(+1)G>A & IVS2(+1)G>T
      LP33324-2
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Arb
LP6781-1
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Ord
LP7751-3
Method
Molgen
LP6404-0

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 2.40 (MIN)
Change Reason: Updated Component part to describe mutations at coding level.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	GBA gen c.IVS2(+1)G>A a IVS2(+1)G>T:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο GBA.c.IVS2(+1)G>A & IVS2(+1)G>T:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική Synonyms: A Arb C G MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο GBA Γονίδιο GBA.c.IVS2(+1)G>A & IVS2(+1)G>T Ιστός Μοριακή γενετική
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.IVS2(+1)G>A y IVS2(+1)G>T:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX	Spanish (Mexico)	Gen GBA c. IVS2 (+1) G> A y IVS2 (+1) G> T:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR	French (France)	GBA gène mutations c.IVS2(+1)G>A et IVS2(+1)G>T:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	GBA, gene.c.IVS2(+1)G>A& IVS2(+1)G>T:Arb:Pt:Sangue/Tess:Ord:Molgen Synonyms: Arbitrario Gene GBA Gene GBA.c.IVS2(+1)G>A& IVS2(+1)G>T Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	GBA유전자.g.GIVS2(+1)A+GBA 유전자.g.GIVS2(+1)T:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL	Dutch (Netherlands)	GBA-gen.c.IVS2(+1)G>A & IVS2(+1)G>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek Synonyms: GBA gen GBA gen.c.IVS2(+1)G>A & IVS2(+1)G>T molgen
pl-PL	Polish (Poland)	GBA gen.c.IVS2(+1)G>A & IVS2(+1)G>T:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna Synonyms: diagnostyka molekularna Gen GBA Gen GBA c.IVS2(+1)G>A i IVS2(+1)G>T
pt-BR	Portuguese (Brazil)	GBA gene.g.GIVS2(+1)A+GBA gene.g.GIVS2(+1)T:Arb:Pt:Sg/Tecido:Ord:Genética molecular Synonyms: ; GBA g.GIVS2(+1)T; GBA g.GIVS2+1A/T; GBA g.GIVS2(+1)A; 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; T prime; I; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	GBA ген.c.IVS2(+1)G>A & IVS2(+1)G>T:Произв:ТчкВрм:Кр/Тк:Пор:МолГен Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	GBA geni.c.IVS2(+1)G>A ve IVS2(+1)G>T:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN	Chinese (China)	GBA 基因.c.IVS2(+1)G>A 与 IVS2(+1)G>T:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法 Synonyms: Ⅰ A 型 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 G 型 GBA g.GIVS2+1A/T;GBA 基因.c.IVS2(+1)G>A & IVS2(+1)G>T I 任意;任意的;人工型依次型;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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