72333-8
JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics method
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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
LOINC Names Get Info
- Fully-Specified Name
- JAK2 gene.p.Val617Phe:
PrThr: Pt: Bone mar: Ord: Molgen - Long Common Name
- JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics method
- 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
Part Model Get Info
Example Answer List: LL360-9
Source: Regenstrief Institute| Answer | 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 (MIN)
- 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 |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen JAK2 p.Val617Phe: |
| el-GR | Greek (Greece) | Γονίδιο JAK2 p.Val617Phe: Synonyms: MOLPATH MOLPATH.MUT Ord P PrThr Pt Γονίδιο Γονίδιο JAK2 Γονίδιο JAK2 p.Val617Phe Μοριακή γενετική Μυελός των οστών Οστό |
| 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 |
| pl-PL | Polish (Poland) | JAK2 gen.p.Val617Phe: Synonyms: diagnostyka molekularna Gen JAK2 Gen JAK2 p.Val617Phe |
| 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
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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.
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LOINC Copyright
Copyright © 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://