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26018 Next-Gen Sequencing, Hematologic Neoplasms (NGSHM)

Next-Gen Sequencing, Hematologic Neoplasms (NGSHM)
Test Code: NGSHMSO
Synonyms/Keywords

NGS hematologic malignancies, NGS cancer panel, hematologic, Somatic mutation detection by next generation sequencing (NGS), hematologic, Next gen sequencing of leukemia (AML) and myelodysplasia (MDS), NGS for myeloid neoplasm evaluation (MPN), Next Gen Sequencing Test, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TERT, TET2, TP53, U2AF1, WT1, ZRSR2, ANKRD26, DDX41, ELANE, ETNK1, KDM6A, RAD21, SH2B3, SRP72, SMC3, STAG2​

Test Components
​This test includes next-generation sequencing to evaluate for the following 42 genes and select intronic regions: ANKRD26, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A,ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SRP72, SMC3, SRSF2, STAG2,TERT, TET2, TP53, U2AF1, WT1, and ZRSR2.
Useful For

Evaluation of hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm) at the time of diagnosis or possibly disease relapse, to help determine diagnostic classification and provide prognostic or therapeutic information for clinical management

Determine the presence of new clinically important gene mutation changes at relapse

Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Bone Marrow (preferred) ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​2 mL ​1 mL
​Blood ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​3 mL ​1 mL
Collection Processing Instructions
1. Invert several times to mix bone marrow or blood sample.
2. Send specimen in original tube.
3. Label specimen as bone marrow or blood.
 
The following information is required:
1. Clinical Diagnosis
2. Pertinent clinical history, including disease phase (diagnostic, remission, relapse/refractory) and therapy status (especially if patient has received a hematopoietic stem cell transplant)
3. Clinical or morphologic suspicion
4. Date of collection
5. Specimen source
Specimen Stability Information
Specimen Type Temperature Time
​Bone Marrow ​ ​Ambient (preferred) ​14 days
​Refrigerate ​14 days
​Blood ​ Ambient (preferred) ​14 days
​Refrigerate ​14 days
Rejection Criteria
Gross Hemolysis
​Bone marrow biopsies, slides, paraffin shavings or frozen tissues and paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, or moderately to severely clotted
Interference

​This test is a targeted next-generation sequencing (NGS) (panel) assay that encompasses 42 genes with variable full exon, partial region (including select intronic or non-coding regions), or hot spot coverage (depending on specific locus). Therefore, this test will not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations), as well as small insertion or deletion type events, but it does not detect gene rearrangements (ie, translocations), gene fusions, copy number alterations, or large scale (segmental chromosome region) deletions and complex changes.

This assay does not distinguish between somatic and germline alterations in analyzed gene regions, particularly with variant allele frequencies (VAF) near 50% or 100%. If nucleotide alterations in genes associated with germline mutation syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. Mutation cells detected between 5% and 10% VAF may indicate low-level (ie, subclonal) tumor populations, although the clinical significance of these findings may not be clear. A low incidence of gene mutations associated with myeloid neoplasms can be detected in nonmalignant hematopoietic cells in individuals with advancing age (clonal hematopoiesis of indeterminate potential, CHIP) and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of undetermined significance (VUS) may represent rare or low frequency polymorphisms.

Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, prior allogeneic hematopoietic stem cell transplant (HSCT) may cause difficulties in resolving somatic or polymorphic alterations, or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.

Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday, Wednesday, Friday ​14-21 days ​Somatic Mutation Detection by Next-Generation Sequencing (NGS)
Reference Lab
Test Information

​Next-generation sequencing (NGS) is a comprehensive molecular diagnostic methodology that can interrogate multiple regions of genomic tumor DNA in a single assay. Many hematologic neoplasms are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to the gene mutation profile. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and sometimes therapeutic information for the managing physicians.

Reference Range Information
Interpretive Report
Interpretation

Mutations (gene alterations) identified, if present, using human reference genome build GRCh37 (hg19). An interpretive report will be provided.

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81450
Synonyms/Keywords

NGS hematologic malignancies, NGS cancer panel, hematologic, Somatic mutation detection by next generation sequencing (NGS), hematologic, Next gen sequencing of leukemia (AML) and myelodysplasia (MDS), NGS for myeloid neoplasm evaluation (MPN), Next Gen Sequencing Test, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TERT, TET2, TP53, U2AF1, WT1, ZRSR2, ANKRD26, DDX41, ELANE, ETNK1, KDM6A, RAD21, SH2B3, SRP72, SMC3, STAG2​

Test Components
​This test includes next-generation sequencing to evaluate for the following 42 genes and select intronic regions: ANKRD26, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A,ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SRP72, SMC3, SRSF2, STAG2,TERT, TET2, TP53, U2AF1, WT1, and ZRSR2.
Ordering Applications
Ordering Application Description
​COM Next-Gen Sequencing, Hematologic Neoplasms (NGSHM)
​Centricity Next-Gen Sequencing, Hematologic Neoplasms (NGSHM)
​Cerner Next-Gen Sequencing, Hematologic Neoplasms (NGSHM)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Bone Marrow (preferred) ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​2 mL ​1 mL
​Blood ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​3 mL ​1 mL
Collection Processing
1. Invert several times to mix bone marrow or blood sample.
2. Send specimen in original tube.
3. Label specimen as bone marrow or blood.
 
The following information is required:
1. Clinical Diagnosis
2. Pertinent clinical history, including disease phase (diagnostic, remission, relapse/refractory) and therapy status (especially if patient has received a hematopoietic stem cell transplant)
3. Clinical or morphologic suspicion
4. Date of collection
5. Specimen source
Specimen Stability Information
Specimen Type Temperature Time
​Bone Marrow ​ ​Ambient (preferred) ​14 days
​Refrigerate ​14 days
​Blood ​ Ambient (preferred) ​14 days
​Refrigerate ​14 days
Rejection Criteria
Gross Hemolysis
​Bone marrow biopsies, slides, paraffin shavings or frozen tissues and paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, or moderately to severely clotted
Interference

​This test is a targeted next-generation sequencing (NGS) (panel) assay that encompasses 42 genes with variable full exon, partial region (including select intronic or non-coding regions), or hot spot coverage (depending on specific locus). Therefore, this test will not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations), as well as small insertion or deletion type events, but it does not detect gene rearrangements (ie, translocations), gene fusions, copy number alterations, or large scale (segmental chromosome region) deletions and complex changes.

This assay does not distinguish between somatic and germline alterations in analyzed gene regions, particularly with variant allele frequencies (VAF) near 50% or 100%. If nucleotide alterations in genes associated with germline mutation syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. Mutation cells detected between 5% and 10% VAF may indicate low-level (ie, subclonal) tumor populations, although the clinical significance of these findings may not be clear. A low incidence of gene mutations associated with myeloid neoplasms can be detected in nonmalignant hematopoietic cells in individuals with advancing age (clonal hematopoiesis of indeterminate potential, CHIP) and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of undetermined significance (VUS) may represent rare or low frequency polymorphisms.

Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, prior allogeneic hematopoietic stem cell transplant (HSCT) may cause difficulties in resolving somatic or polymorphic alterations, or in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.

Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.

Useful For

Evaluation of hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm) at the time of diagnosis or possibly disease relapse, to help determine diagnostic classification and provide prognostic or therapeutic information for clinical management

Determine the presence of new clinically important gene mutation changes at relapse

Test Components
​This test includes next-generation sequencing to evaluate for the following 42 genes and select intronic regions: ANKRD26, ASXL1, BCOR, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A,ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NPM1, NRAS, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SRP72, SMC3, SRSF2, STAG2,TERT, TET2, TP53, U2AF1, WT1, and ZRSR2.
Reference Range Information
Interpretive Report
Interpretation

Mutations (gene alterations) identified, if present, using human reference genome build GRCh37 (hg19). An interpretive report will be provided.

If this test is ordered in the setting of erythrocytosis and suspicion of polycythemia vera, interpretation requires correlation with a concurrent or recent prior bone marrow evaluation.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday, Wednesday, Friday ​14-21 days ​Somatic Mutation Detection by Next-Generation Sequencing (NGS)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81450
For most current information refer to the Marshfield Laboratory online reference manual.