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 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 is divided into lots so that each test is an independent part of the procurement. A tenderer may submit a tender for one or more lots. Two (2) tenderers will be selected as the service providers for each lot if that number of tenders meeting the requirements are received. The service providers shall be chosen based on the award criteria stated in this notice.

In addition to the lots described above, the tenderer may, if desired, offer other genetic tests as a voluntary option under the conditions described in this call for tenders.

The subject-matter of the procurement and the mandatory requirements of it are described in detail in this call for tenders and in its attachments.

A separate contract shall be conducted in writing with each chosen service provider after this tender procedure. The terms of the contract follow the terms stipulated in this call for tenders. The contract will continue until terminated.