The Procurement Entities HUS Group (later also ”HUS”) and ISLAB hereby requests tenders for genetic testing for rare diseases using various methods. The procurement includes 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 analy
sis 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 te