38891-8
ABCC8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP34966-9 ABCC8 gene
The ABCC8 gene (ATP-binding cassette, sub-family C (CFTR/MRP), member 8) [HGNC Gene ID:59] is located on chromosome 11p15.1. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] [NCBI Gene ID:6833]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ABCC8 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- ABCC8 gene Mut Anl Bld/T
- Display Name
- ABCC8 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- ABCC8 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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.; 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
- 13378
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Sulfonylur.Rz.1 Gen. |
| es-ES | Spanish (Spain) | Gen ABCC8 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ABCC8: |
| fr-FR | French (France) | ABCC8 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ABCC8, gene analisi di mutazione mirata: Synonyms: Gene ABCC8 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | ABCC8 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | ABCC8-gen doelgerichte mutatie-analyse: Synonyms: ABCC8 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | AcCC8 análise de mutação genética: Synonyms: AcC36; |
| ru-RU | Russian (Russian Federation) | ABCC8 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | ABCC8 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ABCC8 基因 突变分析: Synonyms: ABC36; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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