94193-0
CDKN1C gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the CDKN1C gene to confirm a clinical diagnosis of Beckwith-Wiedemann syndrome or IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) syndrome.[GHR gene: CDKN1C]
Source: Regenstrief LOINC
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
LP417386-2 CDKN1C gene
The CDKN1C gene (cyclin dependent kinase inhibitor 1C) [HGNC Gene ID:1786] is located on chromosome 11p15.4. This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] [NCBI Gene ID:1028]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CDKN1C gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- CDKN1C Full Mut Anl Bld/T Seq
- Display Name
- CDKN1C gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CDKN1C gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen CDKN1C Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completo del gen CDKN1C: |
fr-FR | French (France) | CDKN1C gène analyse complète des mutations: |
it-IT | Italian (Italy) | CDKN1C, gene Analisi di mutazione completa: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CDKN1C-gen volledige mutatie-analyse: |
zh-CN | Chinese (China) | CDKN1C 基因 全面突变分析: Synonyms: 临床文档型; |
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LOINC Copyright
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