56159-7
LDLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP95532-5 LDLR gene
The LDLR gene (low density lipoprotein receptor) [HGNC Gene ID:6547] is located on chromosome 19p13.2. The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] [NCBI Gene ID:3949]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- LDLR gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- LDLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- LDLR gene Mut Anl Bld/T
- Display Name
- LDLR gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- LDLR 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
- 18723
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Γονίδιο LDLR στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Prid Γονίδιο Γονίδιο LDLR |
es-ES | Spanish (Spain) | Gen LDLR Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen LDLR: |
fr-FR | French (France) | LDLR gène mutation cible trouvée: |
it-IT | Italian (Italy) | LDLR, gene analisi di mutazione mirata: Synonyms: Gene LDLR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | LDLR-gen doelgerichte mutatie-analyse: Synonyms: LDLR gen molgen targeted |
pt-BR | Portuguese (Brazil) | LDLR análise de mutação do gene: Synonyms: FH; |
ru-RU | Russian (Russian Federation) | LDLR ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | LDLR geni Mutasyon analizi: |
zh-CN | Chinese (China) | LDLR 基因 突变分析: Synonyms: FH; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=56159-7
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://