Test Name

Comprehensive Hematologic Malignancy Sequencing Panel

Test Number

LAB9121R

CPT Codes

81450

Test Includes

The Comprehensive Hematologic Malignancy Sequencing Panel is designed to identify clinically relevant DNA mutations for the diagnosis, prognosis, and treatment of patients with acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, lymphoma and other hematologic malignancies. The appropriate panel should be selected. NovaSeq high throughput targeted sequencing technology is used to identify mutations within the following 221 genes:

Comprehensive Hematologic Malignancy Sequencing Panel includes: ABL1, ABL2, ALK, ANKRD26, ARID1A, ARID1B, ASXL1, ATM, ATR, ATRX, B2M, BCL10, BCL11B, BCL2, BCL6, BCL7A, BCOR, BCORL1, BIRC3, BLM, BRAF, BRCC3, BTG1, BTK, CALR, CARD11, CBL, CBLB, CBLC, CCND1, CCND2, CCND3, CCR4, CD19, CD274, CD28, CD40, CD58, CD79A, CD79B, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHD2, CHEK2, CIITA, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CTLA4, CTNNB1, CUX1, CXCR4, DDX3X, DDX41, DIS3, DKC1, DNM2, DNMT3A, EBF1, EED, EGFR, EGR2, ELANE, EP300, EPHA7, EPOR, ERG, ETNK1, ETV6, EZH2, FANCL, FAS, FAT1, FAT4, FBXO11, FBXW7, FGFR3, FLT3, FOXO1, GATA1, GATA2, GATA3, GNA13, GNAS, GNB1, H1-2, H1-4, HNRNPK, HRAS, ID3, IDH1, IDH2, IKZF1, IKZF2, IKZF3, IL7R, INO80, IRF4, IRF8, ITK, JAK1, JAK2, JAK3, KDM6A, KIT, KLF2, KLHL6, KMT2A, KMT2C, KMT2D, KRAS, LEF1, LRP1B, LUC7L2, MAP2K1, MAP3K14, MAPK1, MAX, MBD4, MECOM, MED12, MEF2B, MPL, MTOR, MYC, MYD88, NBN, NF1, NFE2, NFKBIA, NFKBIE, NOTCH1, NOTCH2, NPM1, NRAS, NSD1, NSD2, NT5C2, NTRK1, NTRK2, NTRK3, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PIK3CA, PIK3CD, PIM1, PLCG1, PLCG2, POT1, PPM1D, PRDM1, PRKCB, PRPF40B, PRPF8, PTEN, PTPN1, PTPN11, PTPRD, RAD21, RARA, RB1, REL, RHOA, RIT1, RPL10, RPS15, RRAGC, RUNX1, SAMD9, SAMD9L, SAMHD1, SETBP1, SETD2, SF1, SF3A1, SF3B1, SGK1, SH2B3, SMARCA4, SMC1A, SMC3, SOCS1, SPEN, SRP72, SRSF2, STAG2, STAT3, STAT5B, STAT6, SUZ12, SYK, TBL1XR1, TCF3, TENT5C, TERC, TERT, TET2, TMEM30A, TNFAIP3, TNFRSF14, TP53, TPMT, TRAF2, TRAF3, TYK2, U2AF1, U2AF2, UBA1, WT1, XPO1, ZMYM3, ZNF384, and ZRSR2.

Performing Laboratory / Facility

UCLA Molecular Diagnostics Laboratories (MDL)

Performing Section

Molecular Pathology

Availability

Monday through Friday, 0700-1700

Turnaround Time

10-15 days from receipt of specimen in performing lab.

Methodology

The Comprehensive Hematologic Malignancy Sequencing Panel is a next-generation sequencing (NGS) test performed on DNA extracted from blood or bone marrow aspirate to detect DNA mutations in the 221 targeted genes.

Target sequences are enriched using the capture method and sequenced on the NovaSeq 6000 sequencer (Illumina Inc.). This assay involves sequencing of the entire coding regions of the targeted genes, except for TERC.

Alternate methodologies may be used to detect specific DNA mutations in certain genes, such as FLT3, when definitive results for the genes cannot always be determined via NGS.

Variants which are thought to be clinically significant based on existing knowledge as well as variant of uncertain significance (VUS) of probable somatic origin will be reported.

Limitations

This test has been validated by the UCLA Molecular Diagnostics Laboratories. This assay can detect variants with an approximate mutant allele frequency (VAF) of 2%. A negative (no mutation detected) result does not rule out the presence of clinically relevant DNA mutations, as results depend on various factors. These include, but not limited to, mutant allele frequency, specimen integrity, presence of inhibitors, and/or interfering polymorphisms, availability of sufficient high-quality DNA, the genomic location of the mutations, and the current understanding of the clinical impact of the variants at the time of testing. 

Specimen Type

Whole blood

Bone marrow

Extracted DNA

Container

Lavender/EDTA

Collection Instructions

Shared tubes, such as CBC tubes, are not acceptable specimens due to risk of cross-contamination. Send whole blood to the Laboratory at ambient temperature or refrigerated. Do not freeze.

Volume

Whole blood – 4 mL

Bone marrow – 4 mL

Extracted DNA – 200ng

Minimum Volume

Whole blood – <1 mL, if sufficient DNA is extracted from the blood

Bone marrow – <1 mL, if sufficient DNA is extracted from the bone marrow

Extracted DNA – 100ng

Shipping and Handling Instructions

Transport specimen at room temperature.

Causes for Rejection

Shared tubes, such as CBC tubes

Clotted specimen

Improperly labelled specimen

Broken specimen tube

Specimen older than 7 days

Test Information

Test Name

Comprehensive Hematologic Malignancy Sequencing Panel

Test Number

LAB9121R

CPT Codes

81450

Test Includes

The Comprehensive Hematologic Malignancy Sequencing Panel is designed to identify clinically relevant DNA mutations for the diagnosis, prognosis, and treatment of patients with acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, lymphoma and other hematologic malignancies. The appropriate panel should be selected. NovaSeq high throughput targeted sequencing technology is used to identify mutations within the following 221 genes:

Comprehensive Hematologic Malignancy Sequencing Panel includes: ABL1, ABL2, ALK, ANKRD26, ARID1A, ARID1B, ASXL1, ATM, ATR, ATRX, B2M, BCL10, BCL11B, BCL2, BCL6, BCL7A, BCOR, BCORL1, BIRC3, BLM, BRAF, BRCC3, BTG1, BTK, CALR, CARD11, CBL, CBLB, CBLC, CCND1, CCND2, CCND3, CCR4, CD19, CD274, CD28, CD40, CD58, CD79A, CD79B, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHD2, CHEK2, CIITA, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CTLA4, CTNNB1, CUX1, CXCR4, DDX3X, DDX41, DIS3, DKC1, DNM2, DNMT3A, EBF1, EED, EGFR, EGR2, ELANE, EP300, EPHA7, EPOR, ERG, ETNK1, ETV6, EZH2, FANCL, FAS, FAT1, FAT4, FBXO11, FBXW7, FGFR3, FLT3, FOXO1, GATA1, GATA2, GATA3, GNA13, GNAS, GNB1, H1-2, H1-4, HNRNPK, HRAS, ID3, IDH1, IDH2, IKZF1, IKZF2, IKZF3, IL7R, INO80, IRF4, IRF8, ITK, JAK1, JAK2, JAK3, KDM6A, KIT, KLF2, KLHL6, KMT2A, KMT2C, KMT2D, KRAS, LEF1, LRP1B, LUC7L2, MAP2K1, MAP3K14, MAPK1, MAX, MBD4, MECOM, MED12, MEF2B, MPL, MTOR, MYC, MYD88, NBN, NF1, NFE2, NFKBIA, NFKBIE, NOTCH1, NOTCH2, NPM1, NRAS, NSD1, NSD2, NT5C2, NTRK1, NTRK2, NTRK3, PAX5, PDGFRA, PDGFRB, PHF6, PIGA, PIK3CA, PIK3CD, PIM1, PLCG1, PLCG2, POT1, PPM1D, PRDM1, PRKCB, PRPF40B, PRPF8, PTEN, PTPN1, PTPN11, PTPRD, RAD21, RARA, RB1, REL, RHOA, RIT1, RPL10, RPS15, RRAGC, RUNX1, SAMD9, SAMD9L, SAMHD1, SETBP1, SETD2, SF1, SF3A1, SF3B1, SGK1, SH2B3, SMARCA4, SMC1A, SMC3, SOCS1, SPEN, SRP72, SRSF2, STAG2, STAT3, STAT5B, STAT6, SUZ12, SYK, TBL1XR1, TCF3, TENT5C, TERC, TERT, TET2, TMEM30A, TNFAIP3, TNFRSF14, TP53, TPMT, TRAF2, TRAF3, TYK2, U2AF1, U2AF2, UBA1, WT1, XPO1, ZMYM3, ZNF384, and ZRSR2.

Performing Laboratory / Facility

UCLA Molecular Diagnostics Laboratories (MDL)

Performing Section

Molecular Pathology

Availability

Monday through Friday, 0700-1700

Turnaround Time

10-15 days from receipt of specimen in performing lab.

Methodology

The Comprehensive Hematologic Malignancy Sequencing Panel is a next-generation sequencing (NGS) test performed on DNA extracted from blood or bone marrow aspirate to detect DNA mutations in the 221 targeted genes.

Target sequences are enriched using the capture method and sequenced on the NovaSeq 6000 sequencer (Illumina Inc.). This assay involves sequencing of the entire coding regions of the targeted genes, except for TERC.

Alternate methodologies may be used to detect specific DNA mutations in certain genes, such as FLT3, when definitive results for the genes cannot always be determined via NGS.

Variants which are thought to be clinically significant based on existing knowledge as well as variant of uncertain significance (VUS) of probable somatic origin will be reported.

Limitations

This test has been validated by the UCLA Molecular Diagnostics Laboratories. This assay can detect variants with an approximate mutant allele frequency (VAF) of 2%. A negative (no mutation detected) result does not rule out the presence of clinically relevant DNA mutations, as results depend on various factors. These include, but not limited to, mutant allele frequency, specimen integrity, presence of inhibitors, and/or interfering polymorphisms, availability of sufficient high-quality DNA, the genomic location of the mutations, and the current understanding of the clinical impact of the variants at the time of testing. 
Specimen Collection and Handling

Specimen Type

Whole blood

Bone marrow

Extracted DNA

Container

Lavender/EDTA

Collection Instructions

Shared tubes, such as CBC tubes, are not acceptable specimens due to risk of cross-contamination. Send whole blood to the Laboratory at ambient temperature or refrigerated. Do not freeze.

Volume

Whole blood – 4 mL

Bone marrow – 4 mL

Extracted DNA – 200ng

Minimum Volume

Whole blood – <1 mL, if sufficient DNA is extracted from the blood

Bone marrow – <1 mL, if sufficient DNA is extracted from the bone marrow

Extracted DNA – 100ng

Shipping and Handling Instructions

Transport specimen at room temperature.

Causes for Rejection

Shared tubes, such as CBC tubes

Clotted specimen

Improperly labelled specimen

Broken specimen tube

Specimen older than 7 days

Result Interpretation