75400-2
KCNJ11 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP185372-2 KCNJ11 gene
The KCNJ11 gene (potassium channel, inwardly rectifying subfamily J, member 11) [HGNC Gene ID:6257] is located on chromosome 11p15.1. Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] [NCBI Gene ID:3767]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- KCNJ11 gene full mutation analysis:
Find: Pt: Bld/Tiss: Doc: Sequencing - Long Common Name
- KCNJ11 gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- KCNJ11 Full Mut Anl Bld/T Seq
- Display Name
- KCNJ11 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- KCNJ11 gene variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- KCNJ11 gene full mutation analysis
LP228789-6
- Analyte
- KCNJ11 gene full mutation analysis
LP228789-6
- Component Numerator
- KCNJ11 gene full mutation analysis
LP228789-6
- Component Numerator Core
- KCNJ11 gene
LP185372-2
- Component Numerator Core Suffix
- full mutation analysis
LP150044-8
- 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
- Sequencing
LP150045-5
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen KCNJ11 kompletní mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο KCNJ11 πλήρης ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο KCNJ11 Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen KCNJ11 Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen KCNJ11: |
| fr-FR | French (France) | KCNJ11 gène analyse complète des mutations: |
| it-IT | Italian (Italy) | KCNJ11, gene Analisi di mutazione completa: Synonyms: Gene KCNJ11 Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | KCNJ11-gen volledige mutatie-analyse: Synonyms: KCNJ11 gen |
| pl-PL | Polish (Poland) | KCNJ11 gen pełna analiza mutacji: Synonyms: Gen KCNJ11 |
| tr-TR | Turkish (Turkey) | KCNJ11 geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | KCNJ11 基因 全面突变分析: Synonyms: 临床文档型; |
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://