JAK2 Exon 12 Mutation Screen

Test Identifier Information

NOTE:  As of February 2022 requests for JAK2 exon 12 mutation analysis will be processed through the Myeloid NGS Panel.  All variants will be detected in JAK2 exon 12 with a sensitivity of 5%.  Please refer to Test Manager for more details and price.

JAK2 exon 12 mutation assay: PCR using primers that span the region commonly associated with  acquired JAK2 exon 12 mutations, followed by fragment analysis using capillary electrophoresis, and allele-specific PCR. Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia. 

Most patients present with significantly raised hemoglobin levels,  and a distinctive histological appearance of the bone marrow.

Indications are all of the following:

JAK2 V617F negative on PB; Hb >185/165 g/L (male/female); low EPO (<5 mIU/ml); no secondary causes. Only samples meeting these criteria will be tested for JAK2 exon 12 mutations.

Specimen Collection

Negative for JAK2 V617F mutation.

Low serum erythropoietin level

Hb >185/165 g/L (male/female)

CHLabs Laboratory

Limit of detection approximately 1 abnormal cell in 20.

Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia.