Version 2.78

Part Description

LP343331-7   LPA gene.c.3947+467T>C
The LPA gene, previously called LP, is located on chromosome 6 and encodes the apolipoprotein(a) portion of lipoprotein(a) [Lp(a)]. Several variants in the LPA gene have been associated with increased levels of Lp(a) as well as increased risk of cardiovascular disease. One of these variants is c.5673A>G (rs3798220), which results in a change from isoleucine to methionine at position 4399 (p.Ile4399Met, also known previously as position 1891). Another variant is c.3947+467T>C (rs10455872), which is located in intron 25. PMID: 27605514 Source: Regenstrief LOINC

Fully-Specified Name

Component
LPA gene.c.3947+467T>C
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
LPA c.3947+467T>C Geno Bld/T
Display Name
LPA gene.c.3947+467T>C genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
LPA gene c.3947+467T>C genotype, Blood or tissue specimen

Example Answer List: LL3030-5

Source: Regenstrief LOINC
Answer Code Score Answer ID
T/T (wild type) LA21504-8
T/C (heterozygous) LA21505-5
C/C (homozygous) LA21506-3

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen LPA c.3947 + 467T> C:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen LPA c.3947 + 467T> C:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) LPA gène.c.3947+467T>C:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) LPA, gene.c.3947+467T>C:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene LPA c.3947+467T>C Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) LPA 基因.c.3947+467T>C:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 全血或组织;血液/组织;血液或组织 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 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=92930-7