Lab Test

Test Definition Number : 32
Test Definition Name : JAK2 sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1234
Lab Test Name : JAK2 Exon 12 Mutation Analysis
Status : Active
Expired : No
Updated : 2018-05-04 09:24 EDT

General Attributes

Chromosome Band : 9p24.1
HUGO Gene Name : [JAK2] Janus kinase 2
ICD-Oncology Code
(includes WHO classification diagnoses)
: [9811/3] B lymphoblastic leukemia/lymphoma, NOS
[9828/3] Acute lymphoblastic leukemia, L2 type, NOS
[9836/3] Precursor B-cell lymphoblastic leukemia

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Genetics Category : Acquired (somatic)
Comments : Chronic myeloproliferative diseases (CMPDs) are clonal hematopoietic stem cell disorders characterized by proliferation of one or more myeloid cell lineages in the bone marrow and increased numbers of mature and immature cells in the peripheral blood. CMPDs include polycythemia vera (PV), essential thrombocythemia (ET), idiopathic myelofibrosis (IMF), and chronic myeloid leukemia (CML). Most patients with myeloproliferative disorders carry a V617F JAK2 mutation: 74 - 97% of patients with polycythemia vera (PV); 33 - 57% of patients with essential thrombocythemia (ET); 35 - 50% of patients with myelofibrosis (IMF); and also present infrequently (3-5%) in myelodysplastic syndrome (MDS) & CMML. In conjunction with a histopathologic evaluation, the World Health Organization diagnostic criteria for polycythemia vera include a test for the JAK2 V617F mutation in exon 14. Alternatively, the presence of a JAK2 exon 12 mutation also meets the WHO criterion for molecular evidence of clonality in cases negative for JAK2 V617F. Typically, JAK2 exon 12 mutation for PV is indicated when the V617F mutation has been ruled out.
Specimen Transport Requirements : 5-10mL Blood or Bone Marrow (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes


Copyright © 2015, Association for Molecular Pathology