75387-1
INS 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
LP184367-3 INS gene
The INS gene encodes the preproinsulin precursor of insulin. Diseases associated with alterations of the INS gene include insulin autoimmune syndrome, insulin-dependent diabetes mellitus type 2 (IDDM2), neonatal diabetes mellitus (NDM), and maturity-onset diabetes of the young, type 10 (MODY 10). [OMIM:176730]
Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Source: Online Mendelian Inheritance in Man®,
INS gene
LP184367-3 INS gene
The INS gene (insulin) [HGNC Gene ID:6081] is located on chromosome 11p15.5. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] [NCBI Gene ID:3630]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- INS gene full mutation analysis:
Find: Pt: Bld/Tiss: Doc: Sequencing - Long Common Name
- INS gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- INS Full Mut Anl Bld/T Seq
- Display Name
- INS gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- INS gene variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- INS gene full mutation analysis
LP228714-4
- Analyte
- INS gene full mutation analysis
LP228714-4
- Component Numerator
- INS gene full mutation analysis
LP228714-4
- Component Numerator Core
- INS gene
LP184367-3
- 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 INS kompletní mutační analýza: |
| el-GR | Greek (Greece) | Γονίδιο INS πλήρης ανάλυση μεταλλάξεων: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο INS Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων |
| es-ES | Spanish (Spain) | Gen INS Análisis de mutación completa: |
| es-MX | Spanish (Mexico) | Análisis de mutación completa del gen INS: |
| fr-FR | French (France) | INS gène analyse complète des mutations: |
| it-IT | Italian (Italy) | INS, gene Analisi di mutazione completa: Synonyms: Gene INS Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | INS-gen volledige mutatie-analyse: Synonyms: INS gen |
| pl-PL | Polish (Poland) | INS gen pełna analiza mutacji: Synonyms: Gen INS |
| tr-TR | Turkish (Turkey) | INS geni tam mutasyon analizi: Synonyms: Dizi tayini |
| zh-CN | Chinese (China) | INS 基因 全面突变分析: Synonyms: Insulin; |
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://