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Part Description

LP135459-8   APOB+LDLR+PCSK9 gene
APOB, LDLR and PCSK9 are three genes associated with familial hypercholesterolemia (FH). FH associated with APOB and LDLR mutations is more common than that associated with PCSK9.
APOB encodes apolipoprotein B, a primary protein component of low-density lipoprotein (LDL), very low-density lipoprotein (VLDL) and chylomicrons. Mutations in the APOB gene affect the region of apolipoprotein B that binds to the LDL receptor, which results in decreased receptor binding, leading to increased circulating levels of LDL. [UniProt: P04114]
LDLR encodes the LDL cell membrane receptor, which binds LDL and transports it into the cell. LDLR mutations result in defective binding of LDL to the LDL receptor, resulting in increased circulating levels of LDL. [UniProt: P01130]
PCSK9 encodes proprotein convertase subtilisin/kexin type 9, an enzyme which binds to several different LDL, VLDL and apolipoprotein receptors and promotes their degradation. Mutations in PCSK9 result in increased enzyme activity, which leads to increased receptor degradation and decreased availability of receptors to bind and transport lipids into the cell. The end result is an increase in circulating lipid levels. [UniProt: Q8NBP7] Source: Regenstrief LOINC, UniProt

LOINC Names Get Info

Fully-Specified Name
APOB+LDLR+PCSK9 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
APOB+LDLR+PCSK9 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
APOB+LDLR+PCSK9 gene Mut Bld/T Mut Anl
Display Name
APOB+LDLR+PCSK9 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
APOB+LDLR+PCSK9 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    APOB+LDLR+PCSK9 gene mutations
    LP452172-2
    • Analyte
      APOB+LDLR+PCSK9 gene mutations
      LP452172-2
      • Component Numerator
        APOB+LDLR+PCSK9 gene mutations
        LP452172-2
        • Component Numerator Core
          APOB+LDLR+PCSK9 gene
          LP135459-8
        • 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
  • 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 2.38
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
Common Test Rank Get Info
19384

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen APOB+LDLR+PCSK9 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο APOB+LDLR+PCSK9 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο APOB+LDLR+PCSK9 Γονίδιο PCSK9 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen APOB + LDLR + PCSK9:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen APOB+LDLR+PCSK9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)APOB+LDLR+PCSK9 gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)APOB+LDLR+PCSK9, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene APOB+LDLR+PCSK9 Gene PCSK9 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)APOB + LDLR + PCSK9-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: APOB+LDLR+PCSK9 gen molgen PCSK9 gen targeted
pl-PLPolish (Poland)APOB+LDLR+PCSK9 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genów APOB, LDLR i PCSK9 Analiza mutacji genu PCSK9 diagnostyka molekularna Gen APOB, LDLR i PCSK9 Gen PCSK9 wynik kategorialny
ru-RURussian (Russian Federation)APOB+LDLR+PCSK9 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)APOB+LDLR+PCSK9 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)APOB+LDLR+PCSK9 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: FH3;HCHOLA3;LDLCQ1;NARC-1;NARC1;AI415265;AI747682;MGC47409;Narc1;OTTMUSP00000008554;convertase subtilisin;neural apoptosis regulated convertase 1;proprotein convertase subtilisin/kexin type 9;转换酶枯草杆菌蛋白酶;转化酶枯草杆菌蛋白酶;转换酶枯草杆菌溶菌素;神经细胞凋亡调节转化酶 1;前蛋白转化酶枯草溶菌素 9 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 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=68467-0