Version 2.78

Description

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

Basic Part Properties

Part Name
JAK2 gene exon 12
Part Display Name
JAK2 gene exon 12
Part Type
Component (Describes the core component or analyte measured)
Created On
2009-04-01
Construct for LOINC Short Name
JAK2 exon 12

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP94512-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) JAK2 基因外显子 12
Synonyms: Janus 激酶 2 基因;PV;两面神激酶 2 基因;坚纽斯激酶 2 基因;奥斯勒氏病;杰纳斯激酶 2 基因;真性多血症;真性红细胞增多症;真性红血球增多症;红细胞增多;红细胞增多症;红血球增多症;脾大性红细胞增多;脾大性红细胞增多(Polycythemia vera,PV,奥斯勒氏病);脾大性红细胞增多症
fr-CA French (Canada) Gène JAK2 exon 12
et-EE Estonian (Estonia) JAK2 geeni ekson 12
es-ES Spanish (Spain) Gen JAK2 exon 12
it-IT Italian (Italy) JAK2, esone 12 del gene
Synonyms: Esone 12 del gene JAK2
tr-TR Turkish (Turkey) JAK2 geni ekzon 12
ru-RU Russian (Russian Federation) JAK2 ген экзон 12
nl-NL Dutch (Netherlands) JAK2-gen exon 12
Synonyms: JAK2 gen exon 12