Myeloproliferative disorders (MPD) Testing Sample type required Turnaround times: G-banded analysis (test performed on fixed cultured cells) Bone marrow (Lithium Heparin– 5ml) Diagnostic 21 days – Peripheral blood (Lithium Heparin-5ml) Follow-up 21 days – Fluorescence in situ hybridisation (FISH) (test performed on fixed cultured cells /smear slides) Bone marrow (Lithium Heparin– 5ml) Diagnostic 21 days – MPN/MPD Peripheral blood (Lithium Heparin-5ml) Follow-up 21 days 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) Diagnostic 28 days – – both and exon 12 (PV) Exon 14 (Thr618) in Peripheral blood (EDTA 2-5ml) Follow-up 28 days JAK2 CSF3R CNL – – exon 9 exon 12/13 CALR ASXL1 Systemic mastocytosis MPL exon 10 (ET) exon 17 MPL exon 3 (congenital thrombocytosis) KIT, Mutation detection by High Resolution Melt Curve Analysis (HRM) Bone marrow (EDTA 2-5ml) Diagnostic 28 days – – (test performed on DNA) Peripheral blood (EDTA 2-5ml) Follow-up 28 days – – V617F (exon 10) JAK2 MPL exon 12 JAK2 Mutation detection by Fragment analysis (test performed on DNA) Bone marrow (EDTA 2-5ml) Diagnostic 28 days – – CALR exon 9 Peripheral blood (EDTA 2-5ml) Follow-up 28 days – – Mutation detection by Allele specific real time PCR (AS qPCR) (test performed on DNA) Bone marrow (EDTA 2-5ml) Diagnostic 28 days – – (D816) (mastocytosis) Peripheral (EDTA 2-5ml) Follow-up 28 days KIT – – Current trials participation None.
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.
Test%20directory%20SIHMDS-AG%20June%202018.pdf.docx