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Specimen Collection Manual and Test Catalog

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MYGENVAR HEMATOLOGY GENE PANEL, NEXT GENERATION SEQUENCING

Geisinger Epic Procedure Code:  LAB3509    Geisinger Epic ID:  66457
Test Restriction:  LAB ORDER ONLY

SPECIMEN COLLECTION
Specimen type:  Bone Marrow
Preferred collection container: 
Specimen required: 
3 mL lavender-top K2 EDTA tube
Special notes: 
For non-GMC collection sites, collection tube is included in Bone Marrow (BM) collection kit.

SPECIMEN PROCESSING
Processing instructions: 
Mix well immediately. Do not centrifuge.
Transport temperature: 
Room temperature, 18-25°C, up to 24 hours. Refrigerated, 2-8°C.
Specimen stability: 
Room temperature, 18-25°C, up to 24 hours. Refrigerated, 2-8°C: 7 days. Specimen must be extracted within 7 days.
Rejection criteria: 
Wrong collection tube. Improper storage or transport temperature. Stability limits exceeded. Shared or comingled specimens.

TEST DETAILS
Reference interval: 
Negative (no mutations detected)
Additional information: 
For molecular testing, original tube is required.
CPT code(s):  81455
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 
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, ENTK1, 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

Synonyms: 
Heme Panel, Heme Gene Panel, Hematology Panel, Hematology Gene Panel, Hematology Mutation Panel, NGS, Next-Generation Sequencing
Clinical significance: 
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.
Doctoral Director(s): 
Yi Ding MD, PhD
Review Date:  09/24/2024

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