Test Details

A targeted sequencing assay for 40 genes and gene hotspots that are recurrently mutated in acute myeloid leukemia and myelodysplastic syndrome using UMI- based targeted sequencing approach. The following genes and gene regions are targeted (98 kbp total target space):

BRAF (V600E), FLT3 (TKD and ITD), JAK2 (V617, exon 12), KIT (exons 2, 8-13, 17), KRAS (G12, G13, Q61), MPL (exon 10), NF1, NRAS (G12, G13, Q61), PTPN11 (exons 3, 13, 14), ASXL1, EZH2, SUZ12, CSF3R, RAD21, SMC1A, SMC3, STAG2, DNMT3A, IDH1 (R132), IDH2 (R140, R172), TET2, CALR (exon 9), CBL (exons 8, 9), NPM1 (exon 11), PIGA, PPM1D (exon 6) CUX1, SF3B1, SRSF2 (exon 1), U2AF1 (exons 2, 6), ZRSR2, BCOR, BCORL1, CEBPA, ETV6, GATA2, RUNX1, PHF6, TP53, WT1

Relevant condition(s)Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), Cytopenia, Clonal Cytopenia of Undetermined Significance (CCUS), Clonal Hematopoiesis of Indeterminate Significance (CHIP), Myeloproliferative neoplasm (MPN), Myeloid Disorder
MethodologyNext-Generation Sequencing using Unique Molecular Identifiers (UMIs)
PerformedMonday – Friday
Turnaround7-14 days
Specimen requirementsBone marrow aspirate and Peripheral blood collected within 15 days, or DNA extracted from fresh tissue.
Sample collectionEDTA or Heparin collected blood or marrow
Minimum sample volume>0.5 mL of peripheral blood or bone marrow aspirate
500ng DNA (250 ng minimum for automated library construction, 50 ng minimum for manual library construction)
Storage/Transport ConditionsShip at room temp. Must be in the lab within 96 hours of draw.
Unacceptable ConditionsFFPE tissue is NOT currently acceptable
CPT Code(s)81479