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HelpMayo Test ID NGSHM MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies
Shipping Instructions
Peripheral blood and bone marrow specimens must arrive within 14 days of collection.
Necessary Information
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 Required
Submit only 1 of the following specimens:
Preferred Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability: Ambient (preferred)/Refrigerate
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability: Ambient (preferred)/Refrigerate
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA and source of specimen
Specimen Stability: Frozen (preferred)/Refrigerate/Ambient
Useful For
Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias) at the time of diagnosis or possibly disease relapse
Aiding in determining diagnostic classification
Providing prognostic or therapeutic information for helping guide clinical management
Evaluating patients with suspected VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
Determining the presence of new clinically important gene mutation changes at relapse
Testing Algorithm
For more information see:
-Acute Leukemias of Ambiguous Lineage Testing Algorithm
-Acute Myeloid Leukemia: Testing Algorithm
-Acute Myeloid Leukemia: Relapsed with Previous Remission Algorithm
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
Special Instructions
- Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
- Hematopathology Patient Information
- Acute Leukemias of Ambiguous Lineage Testing Algorithm
- Acute Myeloid Leukemia: Testing Algorithm
- Acute Myeloid Leukemia: Relapsed with Previous Remission Algorithm
- Mast Cell Disorder: Diagnostic Algorithm, Bone Marrow
- Targeted Genes Interrogated by Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing
Method Name
Next-Generation Sequencing (NGS)
Reporting Name
Myeloid Neoplasms, NGS, VSpecimen Type
VariesSpecimen Minimum Volume
Blood, Bone marrow: 1 mL
Extracted DNA: 100 mcL at 20 ng/mcL concentration
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 14 days |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | OK |
| Bone marrow biopsies Slides Paraffin shavings or frozen tissues Paraffin-embedded tissues Paraffin-embedded bone marrow aspirates Moderately to severely clotted |
Reject |
Clinical Information
Next-generation sequencing 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 that enable more specific categorization. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed or confirmed and classified according to the gene mutation profile. Patients with unexplained cytopenias may harbor acquired genetic alterations in hematopoietic cells (clonal cytopenias of uncertain significance), which may carry risk of developing overt myeloid malignancies. The presence and pattern of gene mutations in known or suspected myeloid neoplasm can provide critical diagnostic, prognostic, and therapeutic information to help guide management for the patient's physician. Patients presenting with severe inflammatory features, often with cytopenias, may have VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome and can be identified by the presence of somatic UBA1 gene mutation.
Reference Values
An interpretive report will be provided.
Interpretation
Detailed variant assessment and interpretive comments will be provided for all reportable genetic alterations.
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.
Cautions
This test is a targeted next-generation sequencing (NGS) assay that encompasses 47 genes with variable full exon, partial region (including select intronic or noncoding 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 near 50% or 100%. If nucleotide alterations in genes associated with germline variant syndromes are present and there is a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. 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), and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of uncertain significance may represent rare or low-frequency polymorphisms.
Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, a prior allogeneic hematopoietic stem cell transplant 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 NGS results and is the responsibility of the managing physician.
Clinical Reference
1. National Comprehensive Cancer Network (NCCN). NCCN Guidelines: Acute Myeloid Leukemia. NCCN; Version 2.2022 Available at www.nccn.org/guidelines/guidelines-detail?category=1&id=1411
2. National Comprehensive Cancer Network (NCCN). NCCN Guidelines: Myeloproliferative Neoplasms. NCCN;. Version 2.2022. Available at www.nccn.org/guidelines/guidelines-detail?category=1&id=1477
3. National Comprehensive Cancer Network (NCCN). NCCN Guidelines: Myelodysplastic Syndromes. NCCN; Version 3.2022. Available at www.nccn.org/guidelines/guidelines-detail?category=1&id=1446
4. He R, Chiou J, et al. Molecular markers demonstrate diagnostic and prognostic value in the evaluation of myelodysplastic syndromes in cytopenia patients. Blood Cancer J. 2022;12(1):12. doi:10.1038/s41408-022-00612-w
5. Malcovati L, Gallì A, et al. Clinical significance of somatic mutation in unexplained blood cytopenia. Blood. 2017;129(25):3371-3378. doi:10.1182/blood-2017-01-763425
6. DiNardo CD, Stein EM, et al. Durable remissions with ivosidenib in IDH1-mutated relapsed or refractory AML. N Engl J Med. 2018;378(25):2386-2398. doi:10.1056/NEJMoa1716984
7. Stein EM, DiNardo CD, et al. Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib. Blood. 2019;133(7):676-687. doi:10.1182/blood-2018-08-869008
8. Dohner H, Estey E, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424-447. doi:10.1182/blood-2016-08-733196
9. Smith CC. The growing landscape of FLT3 inhibition in AML. Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):539-547. doi:10.1182/hematology.2019000058
10. Kennedy JA, Ebert BL. Clinical implications of genetic mutations in myelodysplastic syndrome. J Clin Oncol. 2017;35(9):968-974. doi:10.1200/JCO.2016.71.0806
11. Daver N, Schlenk RF, Russell NH, Levis MJ. Targeting FLT3 mutations in AML: review of current knowledge and evidence. Leukemia. 2019;33(2):299-312. doi:10.1038/s41375-018-0357-9
12. Swerdlow SH, Campo E, Harris NL, et al. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. Who Classification of Tumours. Vol 2
13. Beck DB, Ferrada KA, Sikora AK, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628-2638. doi:10.1056/NEJMoa2026834
14. Obiorah IE, Patel BA, Groarke EM, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5:3203-3215. doi:10.1182/bloodadvances.2021004976
Method Description
Next-generation sequencing is performed for the presence of a mutation in targeted regions of 47 genes. For details regarding the targeted gene regions identified in this test see Targeted Genes Interrogated by Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing. Extracted DNA from the clinical specimen is fragmented, adapter ligated, and a sequence library of fragments is prepared using a custom capture hybridization method. Individual patient samples are indexed ("bar-coded") for identification, and the library is sequenced on an Illumina platform. Sequence data are processed through a bioinformatics pipeline, and a variant call file is generated for final analysis and reporting.(Unpublished Mayo method)
Genes analyzed: ANKRD26, ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KDM6A, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SH2B3, SF3B1, SMC3, SRSF2, STAG2, STAT3, TERT, TET2, TP53, U2AF1, UBA1, WT1, and ZRSR2
Day(s) Performed
Monday through Friday
Report Available
16 to 21 daysSpecimen Retention Time
Whole blood, bone marrow: 2 weeks; Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81450
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| NGSHM | Myeloid Neoplasms, NGS, V | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP024 | Specimen Type | 31208-2 |
| NGSD | Indication for Test | 42349-1 |
| 601696 | NGSHM Result | No LOINC Needed |
| 37276 | Pathogenic Mutations Detected | 82939-0 |
| 37283 | Interpretation | 69047-9 |
| 37282 | Clinical Trials | 82786-5 |
| 37277 | Variants of Unknown Significance | 93367-1 |
| 37278 | Additional Notes | 48767-8 |
| 37279 | Method Summary | 85069-3 |
| 37420 | Disclaimer | 62364-5 |
| 37280 | OncoHeme Panel Gene list | 36908-2 |
| 37287 | Reviewed By: | 18771-6 |