Version 2.80

Part Descriptions

LP95531-7   PCSK9 gene
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 this gene have been associated with a rare form of autosomal dominant familial hypercholesterolemia (HCHOLA3). 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: Q8NBP7

LP95531-7   PCSK9 gene
The PCSK9 gene (proprotein convertase subtilisin/kexin type 9) [HGNC Gene ID:20001] is located on chromosome 1p32.3. This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] [NCBI Gene ID:255738] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PCSK9 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
PCSK9 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
PCSK9 gene Mut Anl Bld/T
Display Name
PCSK9 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PCSK9 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73 (MIN)
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
13839

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PCSK9 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο PCSK9
es-ES Spanish (Spain) Gen PCSK9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen PCSK9:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) PCSK9 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) PCSK9, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene PCSK9 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PCSK9-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PCSK9 gen targeted
pt-BR Portuguese (Brazil) PCSK9 análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Proprotein convertase subtilisin/kexin type 9; FH3; HCHOLA3; LDLCQ1; NARC-1; NARC1; Neural apoptosis-regulated convertase 1; Proprotein convertase PC9; Subtilisin/kexin-like protease PC9; Convertase subtilisin/kexin type 9 preproprotein; Hypercholesterolemia, autosomal dominant 3; Neural apoptosis regulated convertase 1; 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) 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-TR Turkish (Turkey) PCSK9 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=56158-9