The Oncohematological Genetics section performs analyzes for the identification of chromosomal and genetic anomalies for the purpose of a correct diagnostic, therapeutic, prognostic and follow-up classification in the main oncohematological pathologies: Myeloproliferative Neoplasms (MPN), Myelodysplastic Syndromes (MDS), Chronic Myeloid Leukemia (CML), Acute Myeloid and Lymphoid Leukemia (AML / ALL), Chronic Lymphatic Leukemia (CLL) and Multiple Myeloma (MM).
Performance list
| MOLECULAR GENETIC | |||
| Diagnostic Area | Test | Analytic method | Reporting time |
| Myeloproliferative syndromes (MPN) | JAK2 V617F QUALITATIVE | ASO PCR | 15 |
| JAK2 V617F QUANTITATIVE | qPCR | ||
|
JAK2 exon 12 |
Sanger | ||
|
MPL exon 10 |
Sanger | ||
| CALRETICULIN exon 9 | |||
| Promielocitic Leukemia | PML-RAR ALPHA | RT-PCR/Q-LAMP PCR | 1 |
|
Chronic Myeloid Leukemia |
BCR/ABL p210 |
RT-PCR/Q-LAMP PCR | 7 |
|
ABL1 Mutations |
Sanger | 15 | |
|
Acute Myeloid Leukemia (Multiplex Panel AML) Note: screening panel BCR/ABL included |
RUNX1/RUNXT1 | RT-PCR | 7 |
| CBF BETA/MHY11 | |||
| DEK-CAN | |||
| MLL self fusion | |||
| NPM1 | RT-PCR, GeneScan | ||
| FLT3 ITD | |||
|
Acute Limphoyd Leukemia (Multiplex Panel ALL) Note: screening panel BCR/ABL included |
MLL-AF4 | RT-PCR | 7 |
| MLL-ENL | |||
| SIL-TAL | |||
| TEL-AML1 | |||
| E2A-PBX1 | |||
| NUP98/RAP1GDS1 | |||
| TAF1/NUP | |||
| Prognostically relevant genes in AML | IDH1 exon 4 | Sanger | 15 |
| IDH2 exon 4 | |||
| CEBPA | |||
| WT1 Expression | RT-qPCR | ||
| Chronic Lymphatic Leukemia | IgVH Study | GeneScan, Sanger | 15 |
| Follow UP | BCR/ABL p210 | RT-qPCR | 15 |
| BCR/ABL p190 | |||
| RUNX1/RUNXT1 | |||
| CBF BETA/MHY11 TIPO A | |||
| NPM1 Tipo A eB/D | |||
| PLM-RAR (BCR 1-2-3) | |||
| Follicular Lymphoma | IgH/BCL2 (MBR, mcr) | PCR | 15 |
| Follicular Lymphoma | IgH/BCL1 (MBR, mcr) | PCR | 15 |
| CYTOGENETIC | |||
| Test | Analytic method | Reporting time | |
| Karyotype on bone marrow | Karyotype | 7 - 15 | |
| Karyotype on peripheral blood | Karyotype | 7 - 15 | |
| MDS Panel | FISH | 15 | |
| MM Panel | FISH su CD138+ | 15 | |
| LLC Panel | FISH | 15 | |
| LSI locus specific probes for the main cytogenetic anomalies | FISH | 15 | |
Membership in the LABNET network Jak-Net Program (GIMEMA)
ERIC certification for the study of IgHv mutational status in chronic lymphatic leukemia