Summary – Program PT Specific-Disease

Scheme design:

DNA samples were sent out to the participating laboratories according to the diseases and mutations reported to be tested by them. In most cases, two samples were provided for each gene/disease for diagnosis, by the method routinely employed by each participating laboratory.

Reporting requirements:

• A filled-in result form provided by QualiGene
• A final report provided to the referring clinician

Performance Criteria:

• Genotype identification
• The report provided to the referring clinician
• Nomenclature

Consultants:

• Dr. Ruth Shomrat
• Mrs. Sigal Tsabari

Tested diseases