- Type
- 33
- Procedure
- open
- Ref. number
- 747546-2025
- Estimated value
- 1,100,000 EUR
- CPV
- 85145000
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 NG…
S 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 (Fa