MYELOID NEOPLASM (AML,MDS), NGS

LAB1231014

The 50 genes NGS-WVUH-Molecular Diagnostic Myeloid Panel (MD-MP) is with an emphasis on genes with diagnostic, prognostic, and therapeutic significance are listed below. This assay is validated for SNV’s and small in/del for the targeted genes.
ABL1: NM_005157 exon: 4-10; ANKRD26: NM_014915 exon:1(c.-113-c.-134); ASXL1: NM_015338.5 exon:1-13; ASXL1:NM_001164603.1  exon:5; BCOR: NM_017745 exon:2-15; BCOR:NM_001123385  exon:8; BCORL1:NM_021946  exon:1-12; BRAF:NM_004333  exon:3-15; CALR:NM_004343 exon:8-9; CBL:  NM_005188 exon:2-16; CBLB:  NM_170662 exon:3,9-10; CEBPA:NM_004364 exon:1; CSF3R:NM_156039  exon:17; CSF3R:NM_172313  exon:10,18; CSF3R:NM_000760  exon:14-16; CUX1: NM_001202543 exon:15-24; CUX1:NM_001913  exon:1-23; CUX1: NM_181552 exon:1; DDX41: NM_016222 exon: 1-17; DNMT3A:  NM_022552 exon: 2-3,5-23; DNMT3A: NM_153759 exon: 1-2; DNMT3A: NM_175630 exon:4; ETNK1: NM_018638 exon:3; ETV6:NM_001987 exon:1-8; EZH2: NM_004456 exon: 2-20; FLT3: NM_004119 exon:8-21; GATA1: NM_002049 exon:2; GATA2: NM_032638 exon:2-6; GNAS: NM_000516 exon: 8-11; IDH1: NM_005896 exon:3-4; IDH2: NM_002168 exon: 4-6; JAK2: NM_004972 exon:12-25; KDM6A: NM_021140 exon: 1-29; KDM6A: NM_001291415 exon:14; KIT: NM_000222 exon: 1-2,5,8-15,17-18; KMT2A: NM_005933 exon: 1-36; KMT2A: NM_001197104 exon: 14; KRAS: NM_004985 exon: 2-4; MPL: NM_005373 exon:10,12; NF1: NM_000267 exon:1-57; NF1: NM_001128147 exon:15; NF1: NM_001042492 exon: 31; NPM1: NM_002520 exon: 11; NRAS: NM_002524 exon: 2-5; PHF6: NM_032335 exon:2-8; PHF6: NM_001015877 exon:10; PHF6: NM_032458 exon:9; PPM1D: NM_003620 exon:6; PTPN11: NM_002834 exon:3,4,7,8,12,13; PTPN11: NM_080601 exon:11; RAD21: NM_006265 exon:2-14; RUNX1: NM_001754 exon:2-3,5-9; RUNX1: NM_001122607 exon:1,5; SETBP1: NM_015559 exon:4 (p.799-p.950); SF3B1: NM_012433 exon:13-21; SH2B3: NM_005475 exon:2-8; SMC1A: NM_001281463 exon:2; SMC3: NM_005445 exon:10,13,19,23,25,28; SRSF2: NM_003016 exon:1-2; STAG2: NM_006603 exon:2-33; STAG2: NM_001042749 exon:32; TET2: NM_001127208 exon:4-11; TET2: NM_017628 exon:3; TP53: NM_000546 exon:1-11; TP53: NM_001276696 exon:10; TP53: NM_001276695 exon:10; U2AF1: NM_006758  exon:2,6,7; U2AF1:  NM_001025204 exon:6; U2AF2: NM_007279 exon:1-12; WT1: NM_000378 exon:1-9; WT1: NM_001198552 exon:8; ZRSR2: NM_005089 exon:1-11

5 mL bone marrow collected in an EDTA (lavender-top) tube having lesions cells

 ≥20% or a minimum

≥10% determined either by morphology (blasts), or flow cytometry

3mL bone marrow collected in EDTA
3mL whole blood collected in EDTA

5 mL Whole blood collected in an EDTA (lavender-top) tube or extracted DNA minimum 200 ng

(5-10 ng/ μL)

Refrigerated, 2-8°C

Whole blood or bone marrow (EDTA)

• Room temperature: 2 days
• Refrigerated: 7 days
• Frozen: Unacceptable

Genomic DNA (once sample has been extracted) can be stored at +2-8°C for one week or -20°C for 1 month

• Non-validated sample type
• Specimen does not meet criteria for: minimum volume, no label in container, mismatching name/MRN/pathology number on specimen requisition, collection, and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; severely hemolyzed and visibly degraded specimen; contaminated specimen; contains suspicious foreign material, sample mix-up.
• The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected
• NOTE: Heparinized samples are not accepted. Heparin may act as an inhibitor of PCR.

Weekly, (Samples received by Friday, 12:30pm will be completed with the next run.)

No clinically reportable variant detected