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) Diagnostic 14 days – Fresh/frozen tissue Follow-up (BM Neuroblastoma ( NBL) 1p/1q, MYCN/AFF3, MYCN/CEP2, Touch imprint slides infiltration) 21 days ATM/CEP11, TP53/MPO – Bone marrow (Lithium Heparin– 5ml) Medulloblastoma MYCN/AFF3, MYC+CEP8 Oligodendroglioma 1p/1q, 19p/19q Low grade glioma b/a MYB Embryonal Tumour with Multilayered Rosettes C19MC/19P13 (ETMR) Mutation detection by Sanger sequencing (test performed on DNA) *FFPE rolled sections (5×10um) Diagnostic 28 days – Fresh/frozen tissue Follow-up 28 days Rhabdoid Tumours Brain tumours – SMARCB1 mutation BRAF exon15 Gastrointestinal Tumours CTNNB1- exon 3 common mutations KIT whole gene IDH1 and IDH2 PDGFRA H3F3A / HIST1H3B/ HIST1H3C TP53 Mutation detection by Allele specific real time PCR (AS qPCR) (test performed on DNA) *FFPE rolled sections (5×10um) Diagnostic 28 days – tissue Follow-up 28 days Brain tumours – BRAF exon15 fusion gene KIAA1549-BRAF Mutation detection by Multiplex Ligation-dependent PCR Amplification (MLPA) *FFPE rolled sections (5×10um) Diagnostic 28 days – (test performed on DNA) Fresh/frozen tissue Follow-up 28 days – Rhabdoid Tumours for deletions SMARCB1: 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.
Test%20directory%20SIHMDS-AG%20June%202018.pdf.docx