48726-4
JAK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP36473-4 JAK2 gene
The JAK2 gene (Janus kinase 2) [HGNC Gene ID:6192] is located on chromosome 9p24. This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3717]
Source: National Center for Biotechnology Information (NCBI) Gene
LP36473-4 JAK2 gene
The JAK2 gene is located on chromosome 9p24. Mutations in exon 12 of the JAK2 gene are present in patients with a distinctive myeloproliferative syndrome. These patients display a clinical phenotype and bone marrow histologic findings which differ from those observed in V617F-positive patients. In most cases they have marked erythrocytosis, absence of leukocytosis or thrombocytosis, low serum erythropoietin levels and isolated erythroid hyperplasia in the bone marrow. PMID: 7267906
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- JAK2 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- JAK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
- Short Name
- JAK2 gene Mut Anl Bld/T
- Display Name
- JAK2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- JAK2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 8353
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen JAK2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen JAK2: |
| fr-FR | French (France) | JAK2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | JAK2, gene analisi di mutazione mirata: Synonyms: Gene JAK2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | JAK2-gen doelgerichte mutatie-analyse: Synonyms: JAK2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | JAK2 análise de mutação genética: Synonyms: PV; |
| ru-RU | Russian (Russian Federation) | JAK2 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | JAK2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | JAK2 基因 突变分析: Synonyms: Janus 激酶 2 基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=48726-4
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://