Acute Lymphoblastic Leukemia (ALL)
The confirmation of the clinical diagnosis of Acute Lymphoblastic Leukemia, as well as the monitoring of minimal residual disease (MRD), is performed using the following tests:
A. Conventional Cytogenetic Analysis
- Bone marrow karyotype
- Peripheral blood karyotype
B. Molecular Cytogenetic Analysis (FISH)
- Detection of translocation t(1;19)(q23;p13), PBX1/E2A (TCF3) fusion gene (L1, L2, pre-B)
- Detection of translocation t(9;22)(q34;q11), BCR/ABL fusion gene (L1, L2, B cell)
- Detection of translocation t(12;21)(p13;q21), ETV6(TEL)/AML1 fusion gene (L1, L2, B cell)
- Detection of MLL gene rearrangement (11q23) (L1, L2, early B, mixed lineage)
- Detection of deletion of chromosome 9, del(9p21), p16 gene (L1, L2, B or T cell)
- Detection of translocation t(2;8)(p12;q24), IGK/MYC fusion gene (L3, B cell)
- Detection of translocation t(8;14)(q24;q32), MYC/IGH fusion gene (L3, B cell)
- Detection of translocation t(8;22)(q24;q11), MYC/IGL fusion gene (L3, B cell)
- Detection of deletion of chromosome 6, del(6q) (L1, L2, B or T cell)
- Chimerism analysis XX/XY after allogeneic transplantation
C. Molecular Genetic Analysis
- Detection and quantification of PBX1/E2A, t(1;19)(q23;p13) fusion gene
- Detection and quantification of BCR/ABL, t(9;22)(q34;q11) fusion gene
- Detection and quantification of ETV6(TEL)/AML1, t(12;21)(p13;q21) fusion gene
- Detection and quantification of AF4/MLL, t(4;11)(q21;q23) fusion gene
