Test name
JAK2 Targeted Mutation Analysis
Purpose of the test
This is a clinical test intended for : Diagnosis, Drug Response, Mutation Confirmation, Prognostic
Condition
3 conditions tested:
- Polycythemia vera (PV)
- Myelofibrosis
- Thrombocythemia 3 (THCYT3)
Methodology
- Molecular Genetics
- Targeted variant analysis
- PCR with allele specific hybridization
- thermocycler
Clinical validity
65- 97% of patients with Polycytemia Vera have the V617F JAK2 mutation
Testing strategy
Allele specific PCR to detect V617F mutation
Test services
Clinical Testing/Confirmation of Mutations Identified Previously
Custom mutation-specific/Carrier testing
This is a clinical test intended for : Diagnosis, Drug Response, Mutation Confirmation, Prognostic
Clinical summary
Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).
Clinical features
- Gastrointestinal hemorrhage
- Leukocytosis
- Splenomegaly
- Thrombocytopenia
- Thromboembolism
- Target population
- People diagnosed with mieloproliferative disorders or policitemia vera.
Clinical validity
65- 97% of patients with Polycytemia Vera have the V617F JAK2 mutation
Clinical utility
Establish or confirm diagnosis
Test comments
- Mutation: V617F
- Allele-specific PCR
Test procedure
Isolation of DNA. Allele specific PCR to recognize V617F mutation. Agarose gel.
Analytical Validity
Sensitivity is almost 95%.
Assay Limitation
Low number of mutated cells are not detected.