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Mutation testing in AML:
What you need to know
with Charles Craddock, Ralph Hills, and Gail Roboz
Wednesday, April 23, 2025
17:30-18:30 BST
This independent educational activity is supported by Thermo Fisher Scientific. All content is developed independently by the faculty. The funder is allowed no influence on the content.
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Common genomic diagnostic tests
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Genetic testing has become an integral part of acute myeloid leukemia diagnosis, risk stratification, and treatment strategy.1 While whole exome and whole genome sequencing are becoming increasingly accessible, classic genetic tests such as Sanger sequencing and polymerase chain reaction (PCR), remain the standard approach for many clinical practices due to their high sensitivity, relatively low costs, and wide availability.1
At present, no single test is able to detect the wide range of potential genetic abnormalities that may be inherited or arise de novo in a patient; therefore, a multiform approach is adopted to generate an accurate and reliable genetic readout.1
In view of this, the AML Hub is proud to present a visual summary of the genomic diagnostic techniques commonly used in clinical practice. We outline the use of each technique, as well as their associated advantages and disadvantages.
- Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet. 2013;14(6):415-426. DOI: 10.1038/nrg3493
- Testing.com. Genetic testing techniques. https://www.testing.com/genetic-testing-techniques/. Accessed Oct 5, 2022.
- Liu HY, Hopping GC, Vaidyanathan U, et al. Polymerase chain reaction and its application in the diagnosis of infectious keratitis. Med Hypothesis Discov Innov Ophthalmol. 2019;8(3):152-155.
- Genetic Alliance; The New England Public Health Genetics Education Collaborative. Understanding genetics: A New England guide for patients and health professionals. Genetic Alliance Monographs and Guides; 2007.
- Alkan C, Sajjadian S, Eichler EE, et al. Limitations of next-generation genome sequence assembly. Nat Methods. 2011;8(1):61-65. DOI: 10.1038/nmeth.1527
- Behjati S, Tarpey PS. What is next generation sequencing? Arch Dis Child Educ Pract Ed. 2013;98:236-238. DOI: 10.1136/archdischild-2013-304340
- Ikbal Atli E, Gurkan H, Onur Kirkizlar H, et al. Pros and cons for fluorescent in situ hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma. Balkan J Med Genet. 2021;23(2):59-64. DOI: 10.2478/bjmg-2020-0020
- Bridge JA. Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms. J Orthop Sci. 2008;13(3):273-282. DOI: 10.1007/s00776-007-1215-1
- Russo G, Zegar C, Giordano A. Advantages and limitations of microarray technology in human cancer. Oncogene. 2003;22(42):6497-6507. DOI: 10.1038/sj.onc.1206865
- EMBL-EBI. Microarrays. https://www.ebi.ac.uk/training/online/courses/functional-genomics-ii-common-technologies-and-data-analysis-methods/microarrays. Accessed Mar 21, 2023.
- Thermo Fisher Scientific. Introduction to gene expression profiling. https://www.thermofisher.com/uk/en/home/life-science/pcr/real-time-pcr/real-time-pcr-learning-center/gene-expression-analysis-real-time-pcr-information/introduction-gene-expression-profiling.html. Accessed Mar 21, 2023.
- Jovic D, Liang X, Zeng H, et al. Single-cell RNA sequencing technologies and applications: A brief overview. Clin Transl Med. 2022;12(3):e694. DOI: 10.1002/ctm2.694
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