72333-8
JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics method
Active
Part Descriptions
LP36477-5 JAK2 gene.p.Val617Phe
JAK2 gene encodes a protein tyrosine kinase that adds a phosphate group to many cellular proteins responsible for signal transduction in a variety of cells. The JAK2 V617F point mutation causes the activation of these pathways, leading to uncontrolled cell proliferation, resulting in myeloproliferative disorders. This mutation is seen in most patients with polycythemia vera and about half of the patients with essential thrombocytosis, thrombocythemia and idiopathic myelofibrosis. The V617F mutation has also been found in some patients with Philadelphia chromosome negative chronic myelogenous leukemia (CML), chronic myelomonocytic leukemia (CMML), chronic neutrophilic leukemia, megakaryocytic leukemia, and some patients with myelodysplastic syndrome (MDS). Information from the American Society of Hematology (www.hematology.org; accessed 2007 03 02.).
Source: Regenstrief Institute
LP36477-5 JAK2 gene.p.Val617Phe
JAK2 is a protein tyrosine kinase that adds a phosphate group to many cellular proteins responsible for signal transduction in a variety of cells. The V617F point mutation causes the activation of these pathways, leading to uncontrolled cell proliferation, resulting in myeloproliferative disorders. This mutation is seen in most patients with polycythemia vera and about half of the patients with essential thromobcytopenia and idiopathic myelofibrosis. Mutation has also been found in some patients with Philadelphia chromosome negative chronic myelogenous leukemia (CML), chronic myelomonocytic leukemia (CMML), chronic neutrophilic leukemia, megakaryocytic leukemia, and some patients with myelodysplastic syndrome (MDS). Information from the American Society of Hematology (www.hematology.org; accessed 2007 03 02.).
Source: Dutch Society for Clinical Chemistry and Laboratory Medicine
Fully-Specified Name
- Component
- JAK2 gene.p.Val617Phe
- Property
- PrThr
- Time
- Pt
- System
- Bone mar
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- JAK2 p.V617F Mar Ql
- Display Name
- JAK2 gene p.Val617Phe Molgen Ql (BM)
- Consumer Name Alpha Get Info
- JAK2 gene p.Val617Phe, Bone marrow
Example Answer List: LL360-9
Source: Regenstrief InstituteAnswer | Code | Score | Answer ID |
---|---|---|---|
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.42
- Last Updated
- Version 2.56
- Change Reason
- Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen JAK2 p. V617F: |
es-MX | Spanish (Mexico) | Gen JAK2 p. Val617Phe: |
fr-CA | French (Canada) | Gène JAK2.p.Val617Phe: |
fr-FR | French (France) | JAK2 gène p.Val617Phe: |
it-IT | Italian (Italy) | JAK2, gene.p.Val617Phe: Synonyms: Gene JAK2 Gene JAK2 p.Val617Phe Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | JAK2-gen.p.V617F: Synonyms: JAK2 gen JAK2 gen.p.V617F molgen |
pt-BR | Portuguese (Brazil) | JAK2 gene.p.V617F: |
ru-RU | Russian (Russian Federation) | JAK2 ген.p.V617F: Synonyms: Порядковый Точка во времени; |
tr-TR | Turkish (Turkey) | JAK2 geni.p.V617F: Synonyms: Mevcut |
zh-CN | Chinese (China) | JAK2 基因.p.V617F: Synonyms: JAK2 p.V617F 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=72333-8
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright