35742-6
SH2D1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33341-6 SH2D1A gene
The SH2D1A gene (SH2 domain containing 1A) [HGNC Gene ID:10820] is located on chromosome Xq25. This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4068]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SH2D1A gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- SH2D1A gene Mut Anl Bld/T
- Display Name
- SH2D1A gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- SH2D1A gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- 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-ES | Spanish (Spain) | Gen SH2D1A Analisis de mutaciones: |
| es-AR | Spanish (Argentina) | gen SH2D1A: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen SH2D1A: |
| fr-FR | French (France) | SH2D1A gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SH2D1A, gene analisi di mutazione mirata: Synonyms: Gene SH2D1A Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SH2D1A 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SH2D1A-gen doelgerichte mutatie-analyse: Synonyms: molgen SH2D1A gen targeted |
| pt-BR | Portuguese (Brazil) | SH2D1A análise de mutação genética: Synonyms: DSHP; |
| ru-RU | Russian (Russian Federation) | SH2D1A ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SH2D1A geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SH2D1A 基因 突变分析: Synonyms: DSHP; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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