Access to genetic testing for patients suspected to have rare genetic diseases observes national and international guidelines for genetic tests. The service is covered by the national health system and is ticket-exempt for diseases listed in annex 1 of Italian Ministerial Decree no. 279/2001. The prescription can only be written by a medical geneticist or specialist after pre-test counselling.
The biological sample (blood or saliva) must be conserved and transported as specified by law and must be accompanied by the following papers:
• photocopy of health card;
• photocopy of identity document;
• clinical record of patient;
• informed consent.