94220-1
SPINK1 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis of the SPINK1 (serine peptidase inhibitor Kazal type 1) gene to identify pathogenic mutations associated with hereditary pancreatitis.[GHR gene: SPINK1]
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
LP31889-6 SPINK1 gene
The SPINK1 gene (serine peptidase inhibitor, Kazal type 1) [HGNC Gene ID:11244] is located on chromosome 5q32. The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008] [NCBI Gene ID:6690]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SPINK1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- SPINK1 gene Full Mut Anl Bld/T Seq
- Display Name
- SPINK1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SPINK1 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 SPINK1 Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen SPINK1: |
fr-FR | French (France) | SPINK1 gène analyse complète des mutations: |
it-IT | Italian (Italy) | SPINK1, gene Analisi di mutazione completa: Synonyms: Gene SPINK1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | SPINK1-gen volledige mutatie-analyse: Synonyms: SPINK1 gen |
tr-TR | Turkish (Turkey) | SPINK1 geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | SPINK1 基因 全面突变分析: Synonyms: Kazal 1 型蛋白酶抑制剂; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=94220-1
LOINC Copyright
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