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Part Description

LP35692-0   SFTPC gene
The SFTPC gene (surfactant protein C) [HGNC Gene ID:10802] is located on chromosome 8p21. This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010] [NCBI Gene ID:6440] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    SFTPC gene mutations
    LP452016-1
    • Analyte
      SFTPC gene mutations
      LP452016-1
      • Component Numerator
        SFTPC gene mutations
        LP452016-1
      • 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
  • 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 2.15
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SFTPC cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SFTPC στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SFTPC Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen SFTPC Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen SFTPC:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)SFTPC gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)SFTPC, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SFTPC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)SFTPC 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)SFTPC-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SFTPC gen targeted
pl-PLPolish (Poland)SFTPC gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu SFTPC diagnostyka molekularna Gen SFTPC wynik kategorialny
pt-BRPortuguese (Brazil)SFTPC análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Surfactant, pulmonary-associated protein C gene; PSP-C; SFTP2; 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-RURussian (Russian Federation)SFTPC 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-TRTurkish (Turkey)SFTPC geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)SFTPC 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: PSP-C;SFTP2;肺表面活性物质蛋白 C 基因;表面活性剂, 肺相关蛋白 C 基因;表面活性物质, 肺相关蛋白 C 基因 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=41059-7