Log In

Part Description

LP19759-7   PSAP gene
The PSAP gene (surfactant protein A1) [HGNC Gene ID:9498] is located on chromosome 10q22.3. This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] [NCBI Gene ID:653509] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PSAP gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
PSAP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
PSAP gene Mut Tested Bld/T
Display Name
PSAP gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PSAP gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    PSAP gene mutations tested for
    LP229429-8
    • Analyte
      PSAP gene mutations tested for
      LP229429-8
      • Component Numerator
        PSAP gene mutations tested for
        LP229429-8
        • Component Numerator Core
          PSAP gene
          LP19759-7
        • Component Numerator Core Suffix
          mutations tested for
          LP32421-7
      • 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
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.13 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PSAP testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PSAP εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PSAP εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ARSpanish (Argentina)determinación de mutaciones del gen PSAP:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen PSAP Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen PSAP analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)PSAP gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)PSAP, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene PSAP Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KRKorean (Korea, Republic Of)PSAP 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)PSAP-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PSAP gen
pl-PLPolish (Poland)PSAP gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PSAP wynik kategorialny
pt-BRPortuguese (Brazil)PSAP teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Variant Gaucher disease; Variant metachromatic leukodystrophy; Prosaposin; GLBA; SAP1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)PSAP ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)PSAP geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)PSAP 基因 已测试的突变: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: GLBA;Prosaposin;SAP1;异染性脑白质营养不良变种;戈谢病变种;脑硫脂沉积病变种;葡糖脑苷脂沉积病变种;鞘脂激活蛋白原;鞘脂激活蛋白原（prosaposin，是一种多功能糖蛋白。合成后的分子量为 53 kD，经过翻译加工后成为功能截然不同的两种蛋白）;高雪氏病变种 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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 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=21730-7