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.