JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method 53761-3
LOINC Code
| LOINC code | 53761-3 | ||
|---|---|---|---|
| name | JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method | ||
| description | The JAK2 gene is located on chromosome 9 and the V617F point mutation causes valine to phenylalanine substitution at position 617. JAK2 is a cytoplasmic protein, with the V617F mutation resulting in constitutive JAK2 activity and enhanced JAK2-signal transducers and activators of transcription signaling. 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.) and ARUP Laboratories (2007 10 24). | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | JAK2 gene.p.Val617Phe mutant/normal | ||
| property | RelRto = Relative Ratio | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| scale | Qn = Quantitative: The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256 | ||
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | JAK2 p.V617F mut/Nor Bld/T | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
| example UCUM units | % The Unified Code for Units of Measure (UCUM) is a code system intended to include all units of measures being contemporarily used in international science, engineering, and business (www.unitsofmeasure.org) | ||
| example unit | % | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
| test rank | 5490 of 2000 most commonly performed tests by labs in USA | ||
| first released | |||
| last updated | 2.73 | ||
| last change type | MIN - change to field other than name | ||
| 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. | ||
Related Names | |||
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Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.
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