Specimen Collection Manual and Test Catalog
MYGENVAR HEMATOLOGY GENE PANEL, NEXT GENERATION SEQUENCING
Geisinger Epic Procedure Code: LAB3509 Geisinger Epic ID: 66457Test Restriction: LAB ORDER ONLY
Bone Marrow
3 mL lavender-top K2 EDTA tube
For non-GMC collection sites, collection tube is included in Bone Marrow (BM) collection kit.
Mix well immediately. Do not centrifuge.
Room temperature, 18-25°C, up to 24 hours. Refrigerated, 2-8°C.
Room temperature, 18-25°C, up to 24 hours. Refrigerated, 2-8°C: 7 days. Specimen must be extracted within 7 days.
Wrong collection tube. Improper storage or transport temperature. Stability limits exceeded. Shared or comingled specimens.
Negative (no mutations detected)
For molecular testing, original tube is required.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
This test is performed by next-generation sequencing of targeted regions of the genes listed: ABL1, ANKRD26, ASXL1, ATRX, BCOR, BCORL1, BRAF, BRCC3, BTK, CALR, CBL, CBLB, CBLC, CCND2, CDC25C, CDKN2A, CEBPA, CREBBP, CSF1R, CSF3R, CTCF, CUX1, CXCR4, DCK, DDX41, DHX15, DNMT3A, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, GNB1, HRAS, IDH1, IDH2, IKZF1, JAK2, JAK3, KDM6A, KIT, KMT2A, KRAS, LUC7L2, MAP2K1, MPL, MYC, MYD88, NF1, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PIGA, PPM1D, PRPF40B, PTEN, PTPN11, RAD21, RBBP6, RHOA, RPS14, RUNX1, SAMD9, SAMD9L, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SLC29A1, SMC1A, SMC3, SRSF2, STAG2, STAT3, STAT5B, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, XPO1, and ZRSR2.
| Gene | Accession | Target Exon |
| ABL1 | NM_005157 | 4, 5, 6, 7, 8, 9, 10 |
| ANKRD26 | NM_014915 | 1 (c.-113-c.-134) |
| ASXL1 | NM_015338 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 |
| ASXL1 | NM_001164603 | 5 |
| ATRX | NM_000489 | 8, 9, 10, 11, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32 |
| BCOR | NM_017745 | 2, 3, 4, 5, 6, 7, 9, 10, 11, 12, 13, 14, 15 |
| BCOR | NM_001123385 | 8 |
| BCORL1 | NM_021946 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 |
| BRAF | NM_004333 | 3, 10, 11, 12, 13, 15 |
| BRCC3 | NM_024332 | 1, 2, 3, 4, 5, 8, 9, 10, 11 |
| BTK | NM_000061 | 15 |
| CALR | NM_004343 | 8, 9 |
| CBL | NM_005188 | 2, 3, 4, 5, 7, 8, 9, 16 |
| CBLB | NM_170662 | 3, 9, 10 |
| CBLC | NM_012116 | 9, 10 |
| CCND2 | NM_001759 | 5 |
| CDKN2A | NM_058197 | 1 |
| CDKN2A | NM_058195 | 1 |
| CDKN2A | NM_000077 | 2, 3 |
| CDKN2A | NM_001195132 | 3 |
| CEBPA | NM_004364 | 1 |
| CREBBP | NM_004380 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22 ,23, 24, 25, 26, 27, 28, 29, 30, 31 |
| CSF1R | NM_005211 | 7, 12, 15, 22 |
| CSF3R | NM_156039 | 17 |
| CSF3R | NM_172313 | 10, 18 |
| CSF3R | NM_000760 | 14, 15, 16 |
| CTCF | NM_006565 | 3, 4, 5, 6, 7, 8, 9, 11, 12 |
| CUX1 | NM_001202543 | 15, 16, 17, 18, 19, 20, 21, 22, 23, 24 |
| CUX1 | NM_001913 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22 ,23 |
| CUX1 | NM_181552 | 1 |
| CXCR4 | NM_003467 | 1, 2 |
| DCK | NM_000788 | 2, 3 |
| DDX41 | NM_016222 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17 |
| DHX15 | NM_001358 | 3 |
| DNMT3A | NM_022552 | 2, 3, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23 |
| DNMT3A | NM_153759 | 1,2 |
| DNMT3A | NM_175630 | 4 |
| ETNK1 | NM_018638 | 3 |
| ETV6 | NM_001987 | 1, 2, 3, 4, 5, 6, 7, 8 |
| EZH2 | NM_004456 | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20 |
| FBXW7 | NM_018315 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
| FLT3 | NM_004119 | 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21 |
| GATA1 | NM_002049 | 2 |
| GATA2 | NM_032638 | 2, 3, 4, 5, 6 |
| GNAS | NM_000516 | 8, 9, 10, 11 |
| GNB1 | NM_002074 | 3, 4, 5, 6, 7, 8, 9, 10, 11 |
| HRAS | NM_005343 | 2, 3, 4 |
| IDH1 | NM_005896 | 3, 4 |
| IDH2 | NM_002168 | 4, 6 |
| IKZF1 | NM_001220769 | 5 |
| IKZF1 | NM_001220767 | 2, 3, 4, 5, 7 |
| IKZF1 | NM_001220771 | 4 |
| IKZF1 | NM_001291845 | 4 |
| IKZF1 | NM_001291847 | 5 |
| JAK2 | NM_004972 | 12, 13, 14, 15, 16, 19, 20, 21, 22, 23, 24, 25 |
| JAK3 | NM_000215 | 3, 11, 13, 15, 16, 18, 19 |
| KDM6A | NM_021140 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29 |
| KDM6A | NM_001291415 | 14 |
| KIT | NM_000222 | 1, 2, 5, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18 |
| KMT2A | NM_005933 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36 |
| KMT2A | NM_001197104 | 14 |
| KRAS | NM_004985 | 2, 3, 4 |
| LUC7L2 | NM_016019 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 |
| LUC7L2 | NM_001244585 | 2 |
| MAP2K1 | NM_002755 | 2, 3 |
| MPL | NM_005373 | 10, 12 |
| MYC | NM_002467 | 1, 2, 3 |
| MYD88 | NM_002468 | 4, 5 |
| MYD88 | NM_001172567 | 3 |
| NF1 | NM_000267 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57 |
| NF1 | NM_001128147 | 15 |
| NF1 | NM_001042492 | 31 |
| NOTCH1 | NM_017617 | 26, 27, 28, 31, 32, 33, 34,c.*370 to c.*380 |
| NPM1 | NM_002520 | 12 |
| NRAS | NM_002524 | 2, 3, 4, 5 |
| PDGFRA | NM_006206 | 12, 14, 15, 18 |
| PHF6 | NM_032335 | 2, 3, 4, 5 ,6, 7, 8 |
| PHF6 | NM_001015877 | 10 |
| PHF6 | NM_032458 | 9 |
| PIGA | NM_002641 | 2, 3, 4, 5 ,6 |
| PIGA | NM_020473 | 1 |
| PPM1D | NM_003620 | 6 |
| PRPF40B | NM_001031698 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26 |
| PTEN | NM_000314 | 1, 2, 3, 4, 5, 6, 7, 8, 9 |
| PTPN11 | NM_002834 | 3, 4, 7, 8, 12, 13 |
| PTPN11 | NM_080601 | 11 |
| RAD21 | NM_006265 | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14 |
| RBBP6 | NM_006910 | p.1444, p.1451, p.1569, p.1654, p.1673 |
| RHOA | NM_001664 | 2, 3, 4, 5 |
| RUNX1 | NM_001754 | 2, 3, 5, 6, 7, 8, 9 |
| RUNX1 | NM_001122607 | 1, 5 |
| SAMD9 | NM_017654 | 3 |
| SAMD9L | NM_152703 | 5 |
| SETBP1 | NM_015559 | 4 (p.799-p.950) |
| SF1 | NM_004630 | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 |
| SF1 | NM_201995 | 14 |
| SF1 | NM_001178030 | 1 |
| SF3A1 | NM_005877 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 (partial), 13, 14, 15, 16 (partial) |
| SF3B1 | NM_012433 | 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24 |
| SH2B3 | NM_005475 | 2, 3, 4, 5, 6, 7, 8 |
| SLC29A1 | NM_001078175 | 4, 13 |
| SMC1A | NM_006306 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25 |
| SMC1A | NM_001281463 | 2 |
| SMC3 | NM_005445 | 1, 2, 3, 4, 5 (partial), 6, 7, 8, 9, 10,11, 12 (partial), 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29 |
| SRSF2 | NM_003016 | 1, 2 |
| STAG2 | NM_006603 | 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33 |
| STAG2 | NM_001042749 | 32 |
| STAT3 | NM_003150 | 20 |
| STAT3 | NM_139276 | 21 |
| STAT5B | NM_012448 | 15, 16, 17, 18 |
| TET2 | NM_001127208 | 4, 5, 6, 7, 8, 9, 10, 11 |
| TET2 | NM_017628 | 3 |
| TP53 | NM_000546 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
| TP53 | NM_001276696 | 10 |
| TP53 | NM_001276695 | 10 |
| U2AF1 | NM_006758 | 2, 6, 7 |
| U2AF1 | NM_001025204 | 6 |
| U2AF2 | NM_007279 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 |
| UBA1 | NM_003334 | 3 |
| WT1 | NM_000378 | 1, 2, 3, 4, 5, 6, 7, 9 |
| WT1 | NM_001198552 | 8 |
| XPO1 | NM_003400 | 15, 16, 18 |
| ZRSR2 | NM_005089 | 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 |
Heme Panel, Heme Gene Panel, Hematology Panel, Hematology Gene Panel, Hematology Mutation Panel, NGS, Next-Generation Sequencing
The MyGenVar Hematology Gene Panel targets DNA variants in hematologic neoplasms by high-throughput sequencing. It helps determine diagnostic classification and provide prognostic or therapeutic information for clinical management.