JAK2 Exon 12 variants test | Genomic Diagnostics

Test description

JAK2 exon 12 variants are observed in a significant number of V617F negative cases of polycythaemia vera (PV), and are included as a WHO major criterion for the diagnosis of PV.

Test information

Test name

JAK2 exon 12

Clinical indication

To aid in the differential diagnosis of patients with suspected polycythaemia vera where the JAK2 V617F variant is negative. This test is now only offered as part of the Myeloproliferative Neoplasm (MPN) panel of 31 genes.

Gene(s)

JAK2

Method

NGS (Next Generation Sequencing)

Turn around time

3 – 4 weeks

Medicare eligibility

73398 or 73399 – criteria apply

Price

If not MBS eligible please contact 1800 822 999 for details

Test request form

Standard pathology request form

Sample type

Blood 6mL EDTA tube or Bone Marrow 4mL EDTA tube

Collection type

Blood or bone marrow

Special instructions

None