21619-2
APOE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19650-8 APOE gene
The APOE gene (apolipoprotein E) [HGNC Gene ID:613] is located on chromosome 19q13.2. The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] [NCBI Gene ID:348]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- APOE gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- APOE gene Mut Anl Bld/T
- Display Name
- APOE gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- APOE gene targeted mutation analysis, Blood or tissue specimen
Example Answer List: LL2986-9
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| APOE e2/e2 | LA21356-3 | ||
| APOE e2/e3 | LA21357-1 | ||
| APOE e2/e4 | LA21361-3 | ||
| APOE e3/e3 (wild type) | LA21358-9 | ||
| APOE e3/e4 | LA21359-7 | ||
| APOE e4/e4 | LA21360-5 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- 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
- 7170
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: APO E Genotyp. |
| de-DE | German (Germany) | APOE-Gen zielgerichtete Mutationsanalyse: |
| es-AR | Spanish (Argentina) | genotipificación del gen APOE: |
| es-ES | Spanish (Spain) | Gen ApoE Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen APOE: |
| fr-FR | French (France) | APOE gène mutation cible trouvée: |
| it-IT | Italian (Italy) | APOE, gene analisi di mutazione mirata: Synonyms: Gene APOE Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | APOE 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | APOE-gen doelgerichte mutatie-analyse: Synonyms: APOE gen molgen targeted |
| pt-BR | Portuguese (Brazil) | APOE análise de mutação genética: Synonyms: Apolipoprotein E gene; |
| ru-RU | Russian (Russian Federation) | APOE ген исследование на мутацию: Synonyms: Аполипопротеина Е ген Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | APOE geni Mutasyon analizi: |
| zh-CN | Chinese (China) | APOE 基因 突变分析: Synonyms: AD2; |
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=21619-2
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright