All content on this site is intended for healthcare professionals only. By acknowledging this message and accessing the information on this website you are confirming that you are a Healthcare Professional. If you are a patient or carer, please visit Know ALL.
The ALL Hub uses cookies on this website. They help us give you the best online experience. By continuing to use our website without changing your cookie settings, you agree to our use of cookies in accordance with our updated Cookie Policy
Introducing
Now you can personalise
your ALL Hub experience!
Bookmark content to read later
Select your specific areas of interest
View content recommended for you
Find out moreThe ALL Hub website uses a third-party service provided by Google that dynamically translates web content. Translations are machine generated, so may not be an exact or complete translation, and the ALL Hub cannot guarantee the accuracy of translated content. The ALL Hub and its employees will not be liable for any direct, indirect, or consequential damages (even if foreseeable) resulting from use of the Google Translate feature. For further support with Google Translate, visit Google Translate Help.
The ALL Hub is an independent medical education platform, sponsored by Jazz Pharmaceuticals, Amgen, and Pfizer and supported through an educational grant from Servier. The funders are allowed no direct influence on our content. The levels of sponsorship listed are reflective of the amount of funding given. View funders.
Common genomic diagnostic tests
Bookmark this article
Genetic testing has become an integral part of cancer 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 ALL 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
More about...
Your opinion matters
7 votes - 14 days left ...
Related articles
Newsletter
Subscribe to get the best content related to ALL delivered to your inbox