34679-1
PTPN11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP32678-2 PTPN11 gene
The PTPN11 gene (protein tyrosine phosphatase, non-receptor type 11) [HGNC Gene ID:9644] is located on chromosome 12q24. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5781]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PTPN11 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- PTPN11 gene Mut Anl Bld/T
- Display Name
- PTPN11 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PTPN11 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- 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) | gen PTPN11: |
| es-ES | Spanish (Spain) | Gen PTPN11 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen PTPN11: |
| fr-FR | French (France) | PTPN11 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PTPN11, gene analisi di mutazione mirata: Synonyms: Gene PTPN11 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PTPN11 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PTPN11-gen doelgerichte mutatie-analyse: Synonyms: molgen PTPN11 gen targeted |
| pt-BR | Portuguese (Brazil) | PTPN11 análise de mutação genética: Synonyms: BPTP3; |
| ru-RU | Russian (Russian Federation) | PTPN11 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | PTPN11 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PTPN11 基因 突变分析: Synonyms: BPTP3; |
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=34679-1
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