LOINC
Version 2.67

72333-8JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics methodActive

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 thromobcytopenia 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, P

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)

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

Example Answer List LL360-9

Source: Regenstrief Institute

Answer Code Score Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6

Language Variants Get Info

zh-CNChinese (CHINA)
JAK2 基因.p.V617F:存在情况或阈值:时间点:骨髓:序数型:分子遗传学类实验室方法
nl-NLDutch (NETHERLANDS)
JAK2-gen.p.V617F:aanwezigheid:moment:beenmerg:ordinaal:moleculair genetisch onderzoek
fr-CAFrench (CANADA)
Gène JAK2.p.Val617Phe:Présence-Seuil:Temps ponctuel:Moelle osseuse:Ordinal:Molgen
fr-FRFrench (FRANCE)
JAK2 gène p.Val617Phe:Présence/Seuil:Ponctuel:Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (ITALY)
JAK2, gene.p.Val617Phe:PrThr:Pt:Mid oss:Ord:Molgen
pt-BRPortuguese (BRAZIL)
ru-RURussian (RUSSIAN FEDERATION)
JAK2 ген.p.V617F:PrThr:ТчкВрм:Костный мозг:Пор:МолГен
es-ESSpanish (SPAIN)
Gen JAK2 p. V617F:PrThr:Punto temporal:Médula ósea:Ord:Genética molecular
tr-TRTurkish (TURKEY)
JAK2 geni.p.V617F:MevcEşik:Zmlı:Kem il:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72333-8