This area of genetic testing includes testing for myeloproliferative diseases. The group of these diseases includes true polycythemia, essential (primary) thrombocythemia, primary myelofibrosis and chronic myeloid leukemia. The word myeloproliferative means that the bone marrow is proliferating and excessive blood cells are forming. Subsequently, uncontrolled proliferation and differentiation of such a transformed cell occurs, resulting in severe hematopoietic disease.
The BCR/ABL fusion gene is of major importance in the diagnosis and prognosis of chronic myeloid leukemia (CML), as it is found in about 95% cases, and CML patients without this rearrangement differ significantly from those who carry the BCR/ABL gene.
Delivery time: 5-7 working days
Myeloproliferative neoplasias arise from the pathological transformation of pluripotent stem cells, which has the potential to differentiate into granulocytic, erythroid and megakaryocytic lineages. There is an excessive production of different types of blood cells (granulocytes, monocytes, erythrocytes and platelets) in the bone marrow.
Delivery time: 5–7 working days
In the case of qualitative detection of the mutation p.V617F of the JAK2 gene, this test allows quantitative evaluation of this mutation. The qPCR method is used to determine the percentage of the mutation in the analysed blood sample.
Delivery time: 15 working days
In patients with erythrocytosis, in case of a negative result when detecting the p.V617F mutation, it is recommended to continue with the investigation of mutations in exon 12 of the JAK2 gene. Mutations in exon 12 of the JAK2 gene occur in 2-3% of patients with polycythaemia vera.
Delivery time: 15 working days
Myeloproliferative neoplasias arise from the pathological transformation of pluripotent stem cells, which has the potential to differentiate into granulocytic, erythroid and megakaryocytic lineages. There is an excessive production of different types of blood cells (granulocytes, monocytes, erythrocytes and platelets) in the bone marrow.
Delivery time: 15 working days
Myeloproliferative neoplasias arise from the pathological transformation of pluripotent stem cells, which has the potential to differentiate into granulocytic, erythroid and megakaryocytic lineages. In the disease, there is an excessive production of different types of blood cells (granulocytes, monocytes, erythrocytes and platelets) in the bone marrow.
Delivery time: 15 working days
Chronic lymphocytic leukaemia (CLL) mainly affects older people (median age at diagnosis 65 years). It is the most common leukaemic disease in Europe and North America, accounting for approximately 30% of adult leukaemia.
Delivery time: 15 working days
B-cell chronic lymphocytic leukemia (B-CLL) is a malignant disease with a heterogeneous clinical course affecting the elderly population. Significant prognostic markers include the presence of mutations in the TP53 gene, which occur in 10-15% of patients.
Delivery time: 15 working days
Cytogenetic testing of DLEU1/LAMP1/ATM/TP53 genes and chromosome 12 copy number obtained by FISH is an important factor in determining the prognosis and treatment of CLL patients. CLL is characterized by the presence of clonal aberrations in pathological B-lymphocytes.
Delivery time: 15 working days