JAK2 and MPL Screening Profile
- Description
- Human myeloproliferative disorders form a range of clonal haematological malignant diseases, the main constituents being Polycythaemia Vera (PV), Essential Thrombocytopenia (ET) and Idiopathic Myelofibrosis (MF). They are a heterogeneous group of diseases characterised by excessive production of blood cells by haemopoietic precursors. JAK2V617F is an exon 14 somatic mutation (G to T) resulting in the substitution of valine to phenylalanine at codon 617. JAK2V617F mutations are associated with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis PMF. MPL mutations are associated with MPNs are restricted to patients with PMF or ET. The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.
- Clinical details
- JAK2V617F mutations are associated with MPNs, including PV, ET and PMF. MPL mutations are restricted to patients with PMF or ET. The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.
- Related condition
- Reference range
- Whole Blood.
- Synonyms
- MPD, Myelorpoliferative disorder, PV, Polycythaemia ET, Essential Thrombocytopenia, MF, Myelofibrosis, JAK2V617F, CALR, MPL, Calrectulin.
- Testing site
- Synnovis : Genomics : Guy's Hospital
- Laboratory
- Cancer Genetics
- Sample type and volume required
- 20ml peripheral blood in EDTA.
- Special sample instructions
- Samples should reach the laboratory within 24 hours of being taken.
- Storage and transport
- Room temperature. Samples should reach the laboratory within 24 hours of being taken.
- Turnaround time
- 2 weeks.
- Contacts
Cancer Genetics at Guy’s Hospital
Phone: 020 7188 1716
Email: synnovis.seglh-ods@nhs.net
Genetics Department
Guy’s Hospital
Great Maze Pond
London SE1 9RT