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26017 Next-Gen Sequencing, Acute Myeloid Leukemia(NGAML)

Next-Gen Sequencing, Acute Myeloid Leukemia(NGAML)
Test Code: NGSAMSO
Synonyms/Keywords

FLT3, NPM1, CEPBA, IDH1, IDH2, KRAS, NRAS, TP53, Next generation sequencing of leukemia, Next Gen Sequencing Test, NGS for acute myeloid leukemia evaluation, NGS hematologic malignancies, Somatic mutation detection by next generation sequencing (NGS), hematologic, DNMT3A, KIT, RUNX1, NGAML

Test Components
This test includes next-generation sequencing to evaluate for the following 11 genes: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53.
Useful For

Evaluation of acute myeloid leukemia (AML) using a focused 11-gene panel at the time of diagnosis or possibly at relapsed/refractory disease, to assist in appropriate classification, prognosis, and therapeutic management of patients

Evaluation to determine if a different gene mutation profile is present at the time of AML 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)
​Submit only 1 of the following specimens: ​ ​ ​ ​ ​
​Bone Marrow Aspirate (preferred) ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​2 mL ​1 mL
​Peripheral Whole Blood ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​​Heparin Green Top Tube (GTT) ​3 mL ​1 mL
​Extracted DNA ​1.5-2 mL tube with indication of volume and concentration of DNA ​Entire specimen ​100 mcL at 20 ng/mcL
Collection Processing Instructions

Bone marrow and peripheral blood 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

Bone marrow & peripheral whole blood:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Extracted DNA:

Label specimen as extracted DNA and source of specimen and provide indication of volume and concentration of the DNA.

 
Specimen Stability Information
Specimen Type Temperature Time
Peripheral blood & ​Bone Marrow ​Aspirate ​Ambient (Preferred) ​14 days
​Refrigerate ​14 days
​Extracted DNA ​Ambient (Preferred) ​14 days
​Refrigerate ​14 days
​Frozen (Preferred) ​14 days
Rejection Criteria

Bone marrow biopsies, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, moderately to severely clotted

Gross Hemolysis

Interference

This test is a targeted next-generation sequencing (NGS) (panel) assay that encompasses 11 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), Hematologic Neoplasms
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, including acute myeloid leukemia (AML), are characterized by morphologic or phenotypic similarities, but can have characteristic somatic mutations in many genes. In addition, many cases of AML lack a clonal cytogenetic finding at diagnosis (normal karyotype) and can be better classified according to gene mutation profile. The presence and pattern of gene mutations in AML can provide critical prognostic information and may help in guiding therapeutic management decisions by physicians, particularly if targeted therapies are available.
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.
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81450
Synonyms/Keywords

FLT3, NPM1, CEPBA, IDH1, IDH2, KRAS, NRAS, TP53, Next generation sequencing of leukemia, Next Gen Sequencing Test, NGS for acute myeloid leukemia evaluation, NGS hematologic malignancies, Somatic mutation detection by next generation sequencing (NGS), hematologic, DNMT3A, KIT, RUNX1, NGAML

Test Components
This test includes next-generation sequencing to evaluate for the following 11 genes: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53.
Ordering Applications
Ordering Application Description
​Clinical Order Manager Next-Gen Sequencing, Acute Myeloid Leukemia(NGSAM)
​Centricity   Next-Gen Sequencing, Acute Myeloid Leukemia(NGSAM)
​Cerner   Next-Gen Sequencing, Acute Myeloid Leukemia(NGSAM)
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)
​Submit only 1 of the following specimens: ​ ​ ​ ​ ​
​Bone Marrow Aspirate (preferred) ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​Heparin Green Top Tube (GTT) ​2 mL ​1 mL
​Peripheral Whole Blood ​EDTA Lavender Top Tube (LTT) or ACD (YTT) ​​Heparin Green Top Tube (GTT) ​3 mL ​1 mL
​Extracted DNA ​1.5-2 mL tube with indication of volume and concentration of DNA ​Entire specimen ​100 mcL at 20 ng/mcL
Collection Processing

Bone marrow and peripheral blood 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

Bone marrow & peripheral whole blood:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Extracted DNA:

Label specimen as extracted DNA and source of specimen and provide indication of volume and concentration of the DNA.

 
Specimen Stability Information
Specimen Type Temperature Time
Peripheral blood & ​Bone Marrow ​Aspirate ​Ambient (Preferred) ​14 days
​Refrigerate ​14 days
​Extracted DNA ​Ambient (Preferred) ​14 days
​Refrigerate ​14 days
​Frozen (Preferred) ​14 days
Rejection Criteria

Bone marrow biopsies, slides, paraffin shavings, frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, moderately to severely clotted

Gross Hemolysis

Interference

This test is a targeted next-generation sequencing (NGS) (panel) assay that encompasses 11 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 acute myeloid leukemia (AML) using a focused 11-gene panel at the time of diagnosis or possibly at relapsed/refractory disease, to assist in appropriate classification, prognosis, and therapeutic management of patients

Evaluation to determine if a different gene mutation profile is present at the time of AML relapse

Test Components
This test includes next-generation sequencing to evaluate for the following 11 genes: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53.
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.
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), Hematologic Neoplasms
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.