Myeloproliferative disorders (MPD) Testing Sample type required Turnaround times: G-banded analysis (test performed on fixed cultured cells) Bone marrow (Lithium Heparin– 5ml) Peripheral blood (Lithium Heparin-5ml) Diagnostic – 21 days Follow-up – 21 days Fluorescence in situ hybridisation (FISH) (test performed on fixed cultured cells /smear slides) Bone marrow (Lithium Heparin– 5ml) Peripheral blood (Lithium Heparin-5ml) Diagnostic – 21 days Follow-up – 21 days MPN/MPD BCR-ABL1 HES (Hyper Eosinophilic Syndrome) FIP1L1/PDGFRA, PDGFRB, FGFR1,IGH, ETV6 Mutation detection by Sanger sequencing (test performed on DNA) Bone marrow (EDTA – 2-5ml) Peripheral blood (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days JAK2 both and exon 12 (PV) CALR exon 9 MPL exon 10 (ET) MPL exon 3 (congenital thrombocytosis) CSF3R Exon 14 (Thr618) in CNL ASXL1 exon 12/13 Systemic mastocytosis KIT, exon 17 Mutation detection by High Resolution Melt Curve Analysis (HRM) (test performed on DNA) Bone marrow (EDTA – 2-5ml) Peripheral blood (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days JAK2 V617F JAK2 exon 12 MPL (exon 10) Mutation detection by Fragment analysis (test performed on DNA) Bone marrow (EDTA – 2-5ml) Peripheral blood (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days CALR exon 9 Mutation detection by Allele specific real time PCR (AS qPCR) (test performed on DNA) Bone marrow (EDTA – 2-5ml) Peripheral (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days KIT (D816) (mastocytosis) Current trials participation None.
Lymphoma Testing Sample type required Turnaround times: G-banded analysis (test performed on fixed cultured cells) Bone marrow (Lithium Heparin– 5ml) Peripheral blood (Lithium Heparin-5ml) Diagnostic – 21 days Follow-up – 21 days Fluorescence in situ hybridisation (FISH) (test performed on fixed cultured cells /smear slides) Bone marrow (Lithium Heparin– 5ml) Peripheral blood (Lithium Heparin-5ml) Solid tissue biopsy (in saline) *CSF Cytospin slides *FFPE tissue section slides (2-4uM) Touch imprint slides Diagnostic – 21 days Follow-up – 21 days Non Hodgkin Lymphoma (NHL) IGH T-cell Lymphomas TRAD,TRB,TRG,TCL1 Follicular Lymphoma IGH-BCL2 (IGH-MYC IF ?TRANSFORMING) Burkitts/Diffuse Large B-cell Lymphoma (DLBCL) IGH-MYC/CEP8, MYC, BCL6, IGH-BCL2 Post Transplant Lymphoproliferative Disorders (PTLD) IGH Anaplastic Large Cell Lymphoma ALK Chronic Lymphocytic Leukaemia (CLL) ATM/TP53, CEP12/13q Mantle Cell Lymphoma (MCL) IGH-CCND1 Mutation detection by Sanger sequencing (test performed on DNA) Bone marrow (EDTA – 2-5ml) Peripheral blood (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days TP53 Current trials participation None. Waldenstroms macroglobulinaemia Testing Sample type required Turnaround times: Mutation detection by Allele specific real time PCR (AS qPCR) (test performed on DNA) Bone marrow (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days MYD88 – p.Leu265Pro – p.S338* Mutation detection by Sanger sequencing (test performed on DNA) Bone marrow (EDTA – 2-5ml) Diagnostic – 28 days Follow-up – 28 days CXCR4 (hotspot) Current trials participation
None. Sarcomas Testing Sample type required Turnaround times: Fluorescence in situ hybridisation (FISH) (test performed on cultured fixed cells /slides) *FFPE tissue section slides (2-4uM) Fresh/frozen tissue – touch imprint slides Bone marrow (Lithium Heparin– 5ml) Diagnostic – 14 days Follow-up (BM infiltration) – 21 days Rhabdomyosarcoma FOXO1 Ewings (PNET) EWSR1 Synovial Sarcoma SS18 (SYT) Infantile Fibrosarcoma/ Congenital Mesoblastic Nephroma ETV6 Dermatofibrosarcoma protuberans (DFSP) Translocation detection by reverse transcription PCR (RT-PCR) (test performed on cDNA) *FFPE rolled sections (5×10um) Fresh/frozen tissue Diagnostic – 28 days Follow-up – 28 days Ewings Sarcoma EWS-FLI1 EWS-ERG Rhabdomyosarcoma PAX3-FOXO1 PAX7- FOXO1 Synovial Sarcoma SS18-SSX1 SS18-SSX2 Desmoplastic round cell tumour EWS-WT1 Clear cell sarcoma EWS-ATF1 Infantile Fibrosarcoma/Congenital Mesoblastic Nephroma ETV6-NTRK3 Current trials participation None. * FFPE: Formalin Fixed Paraffin Embedded tissue
Solid tumours/Central nervous system (CNS) tumours Testing Sample type required Turnaround times: Fluorescence in situ hybridisation (FISH) (test performed on fixed cultured cells /smear slides) *FFPE tissue section slides (2-4uM) Fresh/frozen tissue Touch imprint slides Bone marrow (Lithium Heparin– 5ml) Diagnostic – 14 days Follow-up (BM infiltration) – 21 days Neuroblastoma ( NBL) 1p/1q, MYCN/AFF3, MYCN/CEP2, ATM/CEP11, TP53/MPO Medulloblastoma MYCN/AFF3, MYC+CEP8 Oligodendroglioma 1p/1q, 19p/19q Low grade glioma MYB b/a Embryonal Tumour with Multilayered Rosettes (ETMR) C19MC/19P13 Mutation detection by Sanger sequencing (test performed on DNA) *FFPE rolled sections (5×10um) Fresh/frozen tissue Diagnostic – 28 days Follow-up – 28 days Rhabdoid Tumours SMARCB1 mutation Gastrointestinal Tumours KIT whole gene PDGFRA Brain tumours BRAF exon15 CTNNB1- exon 3 common mutations IDH1 and IDH2 H3F3A / HIST1H3B/ HIST1H3C TP53 Mutation detection by Allele specific real time PCR (AS qPCR) (test performed on DNA) *FFPE rolled sections (5×10um) tissue Diagnostic – 28 days Follow-up – 28 days Brain tumours BRAF exon15 KIAA1549-BRAF fusion gene Mutation detection by Multiplex Ligation-dependent PCR Amplification (MLPA) (test performed on DNA) *FFPE rolled sections (5×10um) Fresh/frozen tissue Diagnostic – 28 days Follow-up – 28 days Rhabdoid Tumours SMARCB1: for deletions Current trials participation None. * FFPE: Formalin Fixed Paraffin Embedded tissue.
Alveolar Caplillary Dysplasia Testing Sample type required Turnaround times: Mutation detection by Sanger sequencing (test performed on DNA) * FFPE rolled sections (5×10um) Fresh/frozen tissue Diagnostic – 28 days Follow-up – 28 days Current trials participation None. * FFPE: Formalin Fixed Paraffin Embedded tissue