Clinical Information (ข้อมูลทางคลินิก):
Hereditary MDS/AML panel using Whole Exome Sequencing (WES) test is the very large scale of genetic test which analyze all protein coding region of genes (exon) in a genome. This technique can be used to analyse 69 genes related with inherited Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
Compared with Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES) is the cost-effective testing. However, this technique cannot see all genetic changes and might miss some genetic portions which are not included in the Exon region.
Clinical Reference (เอกสารอ้างอิง):
1. Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59, 5–15 (2014). https://doi.org/10.1038/jhg.2013.114
2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. PMID: 19861545; PMCID: PMC2768590.
3. Rio-Machin, A., Vulliamy, T., Hug, N. et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun 11, 1044 (2020). https://doi.org/10.1038/s41467-020-14829-5