53897-5

SPAST gene + KIAA0196 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Active

LOINC Names Get Info

Fully-Specified Name: SPAST gene+KIAA0196 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name: SPAST gene + KIAA0196 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name: SPAST+KIAA0196 gene Mut Bld/T Mut Anl
Display Name: SPAST gene + KIAA0196 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info: SPAST gene + KIAA0196 gene mutations found, Blood or tissue specimen

Part Model Get Info

Component
SPAST gene+KIAA0196 gene mutations
LP452139-1
- Analyte
  SPAST gene+KIAA0196 gene mutations
  LP452139-1
  - Component Numerator
    SPAST gene+KIAA0196 gene mutations
    LP452139-1
    - Component Numerator Core
      SPAST gene+KIAA0196 gene
      LP71441-7
    - Component Numerator Core Suffix
      mutations
      LP452208-4
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
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
Nom
LP7750-5
Method
Targeted gene mutation analysis
LP95475-7

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.83 (NAM)
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
cs-CZ	Czech (Czechia)	Gen SPAST+KIAA0196 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο SPAST+γονίδιο KIAA0196 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο KIAA0196 Γονίδιο SPAST Γονίδιο SPAST+γονίδιο KIAA0196 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen SPAST + gen KIAA0196:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES	Spanish (Spain)	Gen SPAST+Gen KIAA0196 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR	French (France)	SPAST+KIAA0196 gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	SPAST, gene+KIAA0196, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene KIAA0196 Gene SPAST Gene SPAST+KIAA0196 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	SPAST-gen + KIAA0196-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: KIAA0196 gen molgen SPAST gen SPAST gen+KIAA0196 gen targeted
pl-PL	Polish (Poland)	SPAST gen+KIAA0196 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: Analiza mutacji genów SPAST i KIAA0196 Analiza mutacji genu KIAA0196 diagnostyka molekularna Gen KIAA0196;Gen WASHC5 Gen SPAST Geny SPAST i KIAA0196 wynik kategorialny
pt-BR	Portuguese (Brazil)	SPAST gene+KIAA0196 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: ; SPAST+KIAA0196 gene; SPG4 gene; Spastic paraplegia 4; Spastin; ADPSP; FSP2; Spastic paraplegia 8; SPG8; strumpellin; 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)	SPAST ген+KIAA0196 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)	SPAST geni+KIAA0196 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	SPAST 基因+KIAA0196 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: ADPSP;FSP2;KIAA1083;SPG4;spastin;痉挛蛋白 MGC111053;SPG8;spastic paraplegia 8 (autosomal dominant);strumpellin;痉挛性截瘫 8 (常染色体显性);strumpellin 蛋白全血或组织;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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Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.