GENOMICS
Conclusions Our transition to automation in FH genetic testing has significantly enhanced laboratory efficiency, throughput, and operational flexibility. It aligns directly with our commitment to providing high-quality diagnostic services and ensuring beter patient care through advanced technological integration.
References 1 Maglio C, Mancina RM, Mota BM, et al.
Genetic diagnosis of familial hypercholesterolaemia by targeted next- generation sequencing. J Intern Med. 2014;276(4):396-403. doi:10.1111/joim.12263
2 Norsworthy PJ, Vandrovcova J, Thomas ER, et al. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population- based study. BMC Med Genet. 2014;15:70. doi:10.1186/1471-2350-15-70
3 Imran M, Arvinden VR, Mehanathan PB, et al. A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening. J Appl Lab Med. 2024;9(6):871-885. doi:10.1093/jalm/jfae089
PPi
4 Iacocca MA, Wang J, Dron JS, et al. Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia. J Lipid Res. 2017;58(11):2202-2209. doi:10.1194/jlr.D079301
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Albrecht S, Sprang M, Andrade- Navarro MA, Fontaine JF. seqQscorer: automated quality control of next- generation sequencing data using machine learning. Genome Biol. 2021;22(1):75. doi:10.1186/s13059-021-02294-2
6 Yarram-Smith L, Dean P, O’Shea S, et al. The impact of routine next generation sequencing testing for familial hypercholesterolaemia – 5 months
service experience. Atherosclerosis. 2014;236(2):3304. doi: 10.1016/j. atherosclerosis.2014.08.002
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About Silvia Borras Silvia Borras is Development Lead and Clinical Scientist at the NHS Grampian Genetics and Molecular Pathology Laboratory Services. With over 20 years of experience in genomic diagnostics, Silvia has led multiple assay validations and workflow transformations in rare and inherited disease and cancer. She is passionate about implementing scalable, automation-driven solutions that enhance diagnostic efficiency and patient care.
www.nhsgrampian.org/service-hub/ north-of-scotland-medical-genetics/
Automated NGS workflows significantly improve throughput and consistency while minimising error risk
About Devsyer Devyser was founded in Stockholm, Sweden in 2004. It produces diagnostic kits and solutions for advanced DNA testing, aiming to streamline laboratory workflows with simple, fast, and easy-to-use solutions.
www.devyser.com
September 2026
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