HUS 080-2024 Genetic testing for rare diseases, various methods

The Procurement Entities HUS Group (later also ”HUS”) and ISLAB requested tenders for genetic testing for rare diseases using various methods. The procurement included the following tests: 1. Ataxia repeat analysis by NGS 2. Repeat expansion analysis (UGT1A1) 3. Repeat expansion analysis (CANVAS) 4. Repeat expansion analysis (MUC1) 5. Genetic testing for hereditary Alpha Tryptasemia 6. MLH1 promoter methylation analysis 7. Beckwith-Wiedemann syndrome testing 8. Cystic fibrosis (CF-EU2) 9. Long-range PCR analysis of CYP21A2 10. Long-range PCR analysis of PKD1 and PKD2 11. Long-range PCR analysis of PMS2 12. Long-range PCR analysis of SBDS 13. Genetic testing for facioscapulohumeral muscular dystrophy (FSHD1 and FSHD2) 14. Chromosomal breakage test (Fanconi anemia) 15. Relative telomere length analysis 16. X inactivation test 17. Genetic testing for haemoglobinopathies 18. Germline episignature, DNA methylation pattern testing for specific genetic disorders 19. Sanger sequencing/ Long-range PCR analysis of the VWF gene 20. Retinoblastoma genetic screening. The procurement was divided into lots so that each test was an independent part of the procurement. An agreement was made with each selected service provider, which included the services for which the service provider had been selected as the supplier.