Updates in the Catalog of Genetic and Genomic Tests in Spain in July 2025

In July 2025, the Common Catalog of Genetic and Genomic Tests of the National Health System was updated. The Catalog launched by the Ministry of Health in 2024 should guarantee that genetic and genomic tests listed within it are available to the population nationwide. Individual Autonomous Communities, which are responsible for the organization and provision of healthcare on their territories, should align their regional coverage policies with the national Catalog. 

Two sections, “ENT diseases” and “Non-hepatic gastrointestinal diseases”, were added, introducing a total of 25 new genetic tests targeting the respective conditions; some examples of clinical indications are provided below (studied genes or regions are shown in brackets):

• Alport Syndrome (COL4A5, COL4A3, COL4A4);
• Pendred syndrome (FOXI1, SLC26A4, KCNJ10);
• Celiac disease (HLA-DQ2 and HLA-DQ8 haplotype);
• Hirschsprung disease (RET);
• Hereditary chronic pancreatitis (CFTR, PRSS1, SPINK1).

See full details in Spanish here.

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