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Test Name:
Genetics - Myelodysplastic Syndrome (MDS) - Diagnostic
Alternate Name: Cytogenetics, chromosome analysis, karyotype, G-banding, myeloid, NGS
Specimen Type: 1. Minimum 2.0mL Bone Marrow in Green Sodium Heparin Tube
2. Minimum 1.0 mL Bone Marrow in EDTA


Storage/ Transport: Ship at room temperature Refrigerate overnight if longer storage is unavoidable.
Turnaround Time: NGS panel: 3 weeks Cytogenetics: 4 weeks
Additional Information: A karyotype will be performed on all suspected MDS diagnostic samples.

If a MDS diagnosis is confirmed by flow cytometry, the Myeloid NGS panel will be initiated by laboratory staff.

The Myeloid Next Generation Sequencing (NGS) panel targets the following regions:
ASXL1 (exon 13), BCOR (full coding sequence), , BCORL1 (exon 1-12), BRAF (exon 15), CALR (exon 9), CBL (exon 8-9), CEBPA (full coding sequence), CSF3R (exon 13-17), CUX1 (exon 1-24), DDX41 (exon 1-17), DNMT3A (full coding sequence), ETV6 (exon 1-8), EZH2 (full coding sequence), FLT3 (exon 14, 15, 20), GATA2 (exon 2-6), IDH1 (exon 4), IDH2 (exon 4), JAK2 (exon 12, 14), KIT (exon 2, 8-11, 13, 17), KMT2A (full coding sequence), KRAS (exon 2, 3), MPL (exon 10), NPM1 (exon 12), NRAS (exon 2,3), PHF6 (exon 2-10), PPM1D (exon 1-6), PTPN11 (exon 3, 13), RAD21 (full coding sequence), RUNX1 (full coding sequence), SETBP1 (exon 4), SF3B1 (exon 13-16), SH2B3 (exon 1-8), SRSF2 (exon 1), STAG2 (full coding sequence), TET2 (exon 2-11), TP53 (exon 2-11), U2AF1 (exon 2, 6), WT1 (exon 7, 9), ZRSR2 (full coding sequence). For any inquiries, please contact geneticsmailbox@hsc.ca

Test was Last Updated: 2/27/2024
Testing Laboratory: Clinical Genetics
Testing Site: JHCC