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
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.
Next-generation sequencing detection of somatic gene mutations, including type, pattern and distribution, has diagnostic, prognostic, and potential therapeutic implications for patients with hematologic cancers of myeloid origin.
The following are available:
-Acute Leukemias of Ambiguous Lineage Testing Algorithm
-Acute Myeloid Leukemia: Testing Algorithm
-Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
-Mast Cell Disorder: Diagnostic Algorithm, Bone Marrow
-For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by OncoHeme Next-Generation Sequencing
Next-Generation Sequencing (NGS)
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
SMC3
STAG2
The following are available:
-Acute Leukemias of Ambiguous Lineage Testing Algorithm
-Acute Myeloid Leukemia: Testing Algorithm
-Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
-Mast Cell Disorder: Diagnostic Algorithm, Bone Marrow
-For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by OncoHeme Next-Generation Sequencing
Varies
Peripheral blood and bone marrow specimens must arrive within 14 days of collection.
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
Question ID | Description | Answers |
---|---|---|
MP024 | Specimen Type | |
NGSD | Indication for Test |
Submit only 1 of the following specimens:
Specimen Type: Bone marrow aspirate (preferred)
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (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: Peripheral blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (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
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Blood, Bone Marrow: 1 mL
Extracted DNA: 100 mcL at 20 ng/mcL concentration
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 |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies (preferred) | 14 days |
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
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.
The following are available:
-Acute Leukemias of Ambiguous Lineage Testing Algorithm
-Acute Myeloid Leukemia: Testing Algorithm
-Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
-Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
-Mast Cell Disorder: Diagnostic Algorithm, Bone Marrow
-For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by OncoHeme Next-Generation Sequencing
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. 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.
An interpretive report will be provided.
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.
This test is a targeted next-generation sequencing assay that encompasses 42 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 (VAF) near 50% or 100%. If nucleotide alterations in genes associated with germline variant 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), and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of undetermined 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 these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.
1. Patel JP, Levine RL: How do novel molecular genetic markers influence treatment decisions in acute myeloid leukemia?. Hematology Am Soc Hematol Educ Program. 2012;2012:28-34
2. Lindsley RC, Ebert BL: The biology and clinical impact of genetic lesions in myeloid malignancies. Blood. 2013 Nov 28;122(23):3741-3748. doi: 10.1182/blood-2013-06-460295
3. Patel JP, Gonen M, Figueroa ME, et al: Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012 Mar 22;366(12):1079-1089. doi: 10.1056/NEJMoa1112304
4. Haferlach T, Nagata Y, Grossman V, et al: Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014 Feb;28(2):241-247. doi: 10.1038/leu.2013.336
5. Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA: New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011 Aug;118(7):1723-1735. doi: 10.1182/blood-2011-02-292102
Next-generation sequencing is performed for the presence of a mutation in targeted regions of the following 42 genes: 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.
See Targeted Gene Regions Interrogated by OncoHeme Next-Generation Sequencing for details regarding the targeted gene regions identified in this test. This is a laboratory-developed test using research use only reagents. 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)
Monday, Wednesday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
81450
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
NGSHM | NGS for Myeloid Neoplasms (NGSHM) | In Process |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
MP024 | Specimen Type | 31208-2 |
NGSD | Indication for Test | 42349-1 |
37276 | Pathogenic Mutations Detected | 82939-0 |
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 |
37283 | Interpretation | 69047-9 |
601696 | NGSHM Result | No LOINC Needed |