60497-5
SLC22A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Descriptions
LP101445-7 SLC22A5 gene
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in SLC22A5 gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia,
Wikipedia
LP101445-7 SLC22A5 gene
The SLC22A5 gene (solute carrier family 22 (organic cation/carnitine transporter), member 5) [HGNC Gene ID:10969] is located on chromosome 5q23.3. Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6584]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- SLC22A5 gene targeted mutation analysis:
Find: Pt: Bld/Tiss: Doc: Molgen - Long Common Name
- SLC22A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- SLC22A5 gene Mut Anl Bld/T
- Display Name
- SLC22A5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SLC22A5 gene targeted mutation analysis, Blood or tissue specimen
Part Model Get Info
- Component
- SLC22A5 gene targeted mutation analysis
LP229627-7
- Analyte
- SLC22A5 gene targeted mutation analysis
LP229627-7
- Component Numerator
- SLC22A5 gene targeted mutation analysis
LP229627-7
- Component Numerator Core
- SLC22A5 gene
LP101445-7
- Component Numerator Core Suffix
- targeted mutation analysis
LP32419-1
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Doc
LP32888-7
- Method
- Molgen
LP6404-0
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.34
- 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17610
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen SLC22A5 cílená mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο SLC22A5 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SLC22A5 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen SLC22A5 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen SLC22A5: |
| fr-FR | French (France) | SLC22A5 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SLC22A5, gene analisi di mutazione mirata: Synonyms: Gene SLC22A5 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | SLC22A5-gen doelgerichte mutatie-analyse: Synonyms: molgen SLC22A5 gen targeted |
| pl-PL | Polish (Poland) | SLC22A5 gen ukierunkowana analiza mutacji: Synonyms: Analiza mutacji genu SLC22A5 diagnostyka molekularna Gen SLC22A5 |
| pt-BR | Portuguese (Brazil) | SLC22A5 análise de mutação do gene: |
| ru-RU | Russian (Russian Federation) | SLC22A5 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SLC22A5 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SLC22A5 基因 突变分析: Synonyms: CDSP; |
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.
LOINC Copyright
Copyright © 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://