Acute Myeloid Leukemia (AML), Rapid Mutation Panel
Acute Myeloid Leukemia (AML), Rapid Mutation Panel
This panel is used to subclassify, assess risk status, and inform treatment selection for acute myeloid leukemia (AML) at diagnosis.
Test Summary
Acute Myeloid Leukemia (AML), Rapid Mutation Panel
Test Code: 12346
Clinical use
- Subclassify, assess risk status, and inform treatment selection for acute myeloid leukemia (AML) at diagnosis
Clinical background
AML is a heterogeneous group of aggressive blood cancers in which myeloid progenitor cells are prevented from developing into mature blood cells. This disruption of hematopoiesis causes systemic health issues, including anemia, neutropenia, and thrombocytopenia.1,2 The average 5-year survival rate for the disease is 30.5%.1 AML can affect people of all ages, but the incidence is higher and outcomes are poorer in older people.1 Prompt laboratory testing at diagnosis can improve outcomes by facilitating immediate clinical decision-making in patient management and treatment selection.3
AML arises from 1 or more genetic alterations, the specific type(s) of which can influence disease classification, prognosis, clinical trial eligibility, and treatment strategy. Based on the presence of certain mutations, AML can be classified into subtypes with prognostic significance (eg, AML with CEBPA mutation, AML with NPM1 mutation),4 and patient risk can be stratified as favorable, intermediate, or adverse.3,5 Additionally, certain mutations are susceptible to targeted therapies that can supplement or supplant more intensive, standard treatment regimens.3 Therefore, the National Comprehensive Cancer Network (NCCN) and the European LeukemiaNET (ELN) recommend that all patients with AML be tested for mutations in a subset of clinically significant genes at the time of diagnosis,3,5 including CEBPA, c-KIT, FLT3 (internal tandem duplications [ITD] and tyrosine kinase domain [TKD] point mutations), IDH1, IDH2, NPM1, and TP53 (Table3,5). Ideally, test results should be available to the treating physician as soon as possible to enable timely clinical decisions in the context of this acute disease.
Table. Frequency and Significance of Common Genetic Mutations in AML
Mutated gene |
Frequency, %3 |
Risk classification5 |
Targeted therapy available? |
CEBPA |
7-11 |
Favorable (bZIP in-frame mutated) |
No |
c-KIT |
20 |
Intermediate |
No |
FLT3-ITD |
30 |
Intermediate |
Yes |
FLT3-TKD |
10 |
Intermediate |
Yes |
IDH1 |
6-9 |
Intermediate |
Yes |
IDH2 |
8-12 |
Intermediate |
Yes |
NPM1 |
28-35 |
Favorable (without FLT3-ITD) Intermediate (with FLT3-ITD) |
Yes |
TP53 |
12-13 |
Adverse |
No |
| AML, acute myeloid leukemia; bZIP, basic leucine zipper; ITD, internal tandem duplication; TKD, tyrosine kinase domain point mutation. |
Quest Diagnostics offers the AML, Rapid Mutation Panel (test code 12346), an assay panel that tests for abnormalities in the following 7 AML-related genes: CEBPA, c-KIT, FLT3, IDH1, IDH2, NPM1, and TP53. Because of the limited number of genes included, this panel provides faster results than larger, more comprehensive panels, making it optimal for testing immediately actionable mutations at the time of diagnosis. A larger panel that provides a more comprehensive mutational profile with extended turnaround time is also available (LeukoVantage®, Acute Myeloid Leukemia [AML]; test code 36787). Quest also offers an AML-targeted fluorescence in situ hybridization (FISH) panel (test code 13730) and hematologic malignancy chromosome analysis (test code 14600), which can aid in prognosis and risk stratification.
Individuals suitable for testing
- Patients with newly diagnosed AML
Methods
- Next-generation sequencing of DNA extracted from anti-coagulated whole blood or bone marrow
- Analytical sensitivity (minimum detectable percentage of mutant alleles): 5%
Interpretive information
The patient report indicates whether mutations in each gene are detected or not detected. Mutation results may inform classification, risk assessment, prognosis, and treatment strategy, in the context of clinical characteristics and results of other testing. Multiple mutations may be present, and these may interact to affect prognosis (Table). Recommendations and available treatments change frequently; refer to the latest guidelines for the most recent information.
References
- DiNardo CD, Erba HP, Freeman SD, et al. Acute myeloid leukaemia. Lancet. 2023;401(10393):2073-2086. doi:10.1016/s0140-6736(23)00108-3
- Arber DA, Borowitz MJ, Cessna M, et al. Initial diagnostic workup of acute leukemia: guideline from the College of American Pathologists and the American Society of Hematology. Arch Pathol Lab Med. 2017;141(10):1342-1393. doi:10.5858/arpa.2016-0504-cp
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology (NCCN guidelines®): acute myeloid leukemia. version 3.2026. Published November 24, 2025. https://www.nccn.org
- Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. doi:10.1038/s41375-022-01613-1
- Döhner H, Wei AH, Appelbaum FR, et al. Diagnosis and management of AML in adults: 2022 ELN recommendations from an international expert panel. Blood. 2022;140(12):1345-1377. doi:10.1182/blood.2022016867
Content reviewed 3/2026
This panel is used to subclassify, assess risk status, and inform treatment selection for acute myeloid leukemia (AML) at diagnosis.
Test Summary
Acute Myeloid Leukemia (AML), Rapid Mutation Panel
Test Code: 12346
Clinical use
- Subclassify, assess risk status, and inform treatment selection for acute myeloid leukemia (AML) at diagnosis
Clinical background
AML is a heterogeneous group of aggressive blood cancers in which myeloid progenitor cells are prevented from developing into mature blood cells. This disruption of hematopoiesis causes systemic health issues, including anemia, neutropenia, and thrombocytopenia.1,2 The average 5-year survival rate for the disease is 30.5%.1 AML can affect people of all ages, but the incidence is higher and outcomes are poorer in older people.1 Prompt laboratory testing at diagnosis can improve outcomes by facilitating immediate clinical decision-making in patient management and treatment selection.3
AML arises from 1 or more genetic alterations, the specific type(s) of which can influence disease classification, prognosis, clinical trial eligibility, and treatment strategy. Based on the presence of certain mutations, AML can be classified into subtypes with prognostic significance (eg, AML with CEBPA mutation, AML with NPM1 mutation),4 and patient risk can be stratified as favorable, intermediate, or adverse.3,5 Additionally, certain mutations are susceptible to targeted therapies that can supplement or supplant more intensive, standard treatment regimens.3 Therefore, the National Comprehensive Cancer Network (NCCN) and the European LeukemiaNET (ELN) recommend that all patients with AML be tested for mutations in a subset of clinically significant genes at the time of diagnosis,3,5 including CEBPA, c-KIT, FLT3 (internal tandem duplications [ITD] and tyrosine kinase domain [TKD] point mutations), IDH1, IDH2, NPM1, and TP53 (Table3,5). Ideally, test results should be available to the treating physician as soon as possible to enable timely clinical decisions in the context of this acute disease.
Table. Frequency and Significance of Common Genetic Mutations in AML
Mutated gene |
Frequency, %3 |
Risk classification5 |
Targeted therapy available? |
CEBPA |
7-11 |
Favorable (bZIP in-frame mutated) |
No |
c-KIT |
20 |
Intermediate |
No |
FLT3-ITD |
30 |
Intermediate |
Yes |
FLT3-TKD |
10 |
Intermediate |
Yes |
IDH1 |
6-9 |
Intermediate |
Yes |
IDH2 |
8-12 |
Intermediate |
Yes |
NPM1 |
28-35 |
Favorable (without FLT3-ITD) Intermediate (with FLT3-ITD) |
Yes |
TP53 |
12-13 |
Adverse |
No |
| AML, acute myeloid leukemia; bZIP, basic leucine zipper; ITD, internal tandem duplication; TKD, tyrosine kinase domain point mutation. |
Quest Diagnostics offers the AML, Rapid Mutation Panel (test code 12346), an assay panel that tests for abnormalities in the following 7 AML-related genes: CEBPA, c-KIT, FLT3, IDH1, IDH2, NPM1, and TP53. Because of the limited number of genes included, this panel provides faster results than larger, more comprehensive panels, making it optimal for testing immediately actionable mutations at the time of diagnosis. A larger panel that provides a more comprehensive mutational profile with extended turnaround time is also available (LeukoVantage®, Acute Myeloid Leukemia [AML]; test code 36787). Quest also offers an AML-targeted fluorescence in situ hybridization (FISH) panel (test code 13730) and hematologic malignancy chromosome analysis (test code 14600), which can aid in prognosis and risk stratification.
Individuals suitable for testing
- Patients with newly diagnosed AML
Methods
- Next-generation sequencing of DNA extracted from anti-coagulated whole blood or bone marrow
- Analytical sensitivity (minimum detectable percentage of mutant alleles): 5%
Interpretive information
The patient report indicates whether mutations in each gene are detected or not detected. Mutation results may inform classification, risk assessment, prognosis, and treatment strategy, in the context of clinical characteristics and results of other testing. Multiple mutations may be present, and these may interact to affect prognosis (Table). Recommendations and available treatments change frequently; refer to the latest guidelines for the most recent information.
References
- DiNardo CD, Erba HP, Freeman SD, et al. Acute myeloid leukaemia. Lancet. 2023;401(10393):2073-2086. doi:10.1016/s0140-6736(23)00108-3
- Arber DA, Borowitz MJ, Cessna M, et al. Initial diagnostic workup of acute leukemia: guideline from the College of American Pathologists and the American Society of Hematology. Arch Pathol Lab Med. 2017;141(10):1342-1393. doi:10.5858/arpa.2016-0504-cp
- National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology (NCCN guidelines®): acute myeloid leukemia. version 3.2026. Published November 24, 2025. https://www.nccn.org
- Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. doi:10.1038/s41375-022-01613-1
- Döhner H, Wei AH, Appelbaum FR, et al. Diagnosis and management of AML in adults: 2022 ELN recommendations from an international expert panel. Blood. 2022;140(12):1345-1377. doi:10.1182/blood.2022016867
Content reviewed 3/2026