Test Name
AML Mutational Analysis
Test Code
M AML
Synonyms
AML Mutation Analysis (ASXL1, CEBPA*, DNMT3A, FLT3*, IDH1, IDH2, KIT, NPM1, RUNX1, TET2, TP53, WT1) / Acute Myeloid Leukemia Mutational Analysis • FLT3* and CEBPA* components performed via send-out testing and billed separately
Associations
Acute Myeloid Leukemia (AML)
Reflex Testing
- AML mutational testing will be performed simultaneously with cytogenetic testing.
- FLT3* testing by PCR (send-out assay) will be initiated in parallel with AML mutation testing by
CPT Codes
81245; 81479; 81310
Turnaround Time
10 days
Specimen Requirements
5.0 mL (min 3.0 mL) peripheral blood or (min 2.0 mL) bone marrow in EDTA, Sodium Heparin or ACD
Specimen Stability
18-25°C for 1 week; 2 -8°C for up to 14 days
Storage & Handling
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)
Causes for Rejections
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Description
The AML gene analysis is a qualitative diagnostic test containing a subset of genes (ASXL1, DNMT3A, IDH1, IDH2, KIT, NPM1, RUNX1, TET2, TP53, WT1) combined with send out testing for FLT3 and CEPBA. Recent updates in NCCN guidelines and WHO classification
References
- Arber, D. A., Orazi, A., Hasserjian, R., Thiele, J., Borowitz, M. J., Le Beau, M. M., . . . Vardiman, J. W. (2016). The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 127(20), 2391-2405. doi:10.1182/blood-2016-03-643544
- Bacher, U., Haferlach, C., Kern, W., Haferlach, T., & Schnittger, S. (2008). Prognostic relevance of FLT3-TKD mutations in AML: the combination matters—an analysis of 3082 patients. Blood, 111(5), 2527-2537. doi:10.1182/blood-2007-05-091215
- Daniel A. Arber, M. J. (2017). Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. Archives of Pathology & Laboratory Medicine. doi:doi.org/10.5858/arpa.2016-0504-CP
- Hatzimichael, E., Georgiou, G., Benetatos, L., & Briasoulis, E. (2013). Gene mutations and molecularly targeted therapies in acute myeloid leukemia. American Journal of Blood Research, 3(1), 29-51.
- Illumina. (2016). TruSight Myeloid Sequencing Panel. Data Sheet: Cancer Genomics.
- Illumina. (2016, April). TruSight Myeloid Sequencing Panel Reference Guide. Document #, 15054779 v02.
- Kumar, C. C. (2011). Genetic Abnormalities and Challenges in the Treatment of Acute Myeloid Leukemia. Genes&Cancer, 2(2), 95-107. doi:10.1177/1947601911408076
- Leukemia & Lymphoma Society. (2016, Aug 30). Facts and Statistics. Retrieved from lls.org: https://www.lls.org/http%3A/llsorg.prod.acquia-sites.com/facts-and-statistics/facts-and-statistics-overview/facts-and-statistics
- Muhammad Tayyab, Z. N., & Noor, N. (2014). Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML). Journal of Cancer Science & Therapy, 6, 337-349. doi:10.4172/1948-5956.1000292
- National Comprehensive Cancer Network. (2016). Acute Myeloid Leukemia. Version 2.2016. The NCCN Guidelines. Retrieved from NCCN.org
- Patel, J. P., Gönen, M., Figueroa, M. E., Fernandez, H., Sun, Z., Racevskis, J., . . . Ch. (2012). Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia. New England Journal of Medicine, 366(12), 1079-1089. Retrieved from http://www.nejm.org/doi/full/10.1056/NEJMoa1112304
- WebMD. (2016, Aug 30). Leukemia & Lymphoma. Retrieved from WebMD: http://www.webmd.com/cancer/lymphoma/understanding-leukemia-basics
