34497-8
SPINK1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
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 targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- SPINK1 gene Mut Anl Bld/T
- Display Name
- SPINK1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SPINK1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.10
- Last Updated
- Version 2.66
- 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
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | análisis de mutación genética SPINK1: |
es-ES | Spanish (Spain) | Gen SPINK1 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen SPINK1: |
fr-FR | French (France) | SPINK1 gène mutation cible trouvée: |
it-IT | Italian (Italy) | SPINK1, gene analisi di mutazione mirata: Synonyms: Gene SPINK1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | SPINK1 유전자 돌연변이 분석: |
nl-NL | Dutch (Netherlands) | SPINK1-gen doelgerichte mutatie-analyse: Synonyms: molgen SPINK1 gen targeted |
pt-BR | Portuguese (Brazil) | SPINK1 análise de mutação genética: Synonyms: Serine protease inhibitor, Kazal type 1; |
ru-RU | Russian (Russian Federation) | SPINK1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | SPINK1 geni Mutasyon analizi: |
zh-CN | Chinese (China) | SPINK1 基因 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:
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