Version 2.78

Description

Mutations in the Janus kinase 2 (JAK2) gene exon 12 are present in significant numbers of patients with myeloproliferative neoplasias (MPNs). MPNs are distinguished by having clones of malignant cells that are derived from an unrestricted proliferation of hematopoietic progenitors. In patients with MPN, excessive numbers of mature and functional blood cells are produced. Mutations that interfere with the signaling of protein tyrosine kinase are also thought to play a role in MPNs. PMID: 19074595 Source: Regenstrief LOINC

Basic Part Properties

Part Name
JAK2 gene exon 12 targeted mutation analysis
Part Display Name
JAK2 gene exon 12 targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-09-13
Construct for LOINC Short Name
JAK2 gene exon 12 targeted mutation analysis

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP228747-4

Language Variants Get Info

Tag Language Translation
fr-CA French (Canada) JAK2 exon 12 gène ciblé, analyse de la mutation