Tests for hepatic diseases introduced in the Spanish Catalog of Genetic and Genomic Tests

In late February and early March 2025, the Common Catalog of Genetic and Genomic Tests of the National Health System was updated in Spain. The Catalog launched by the Ministry of Health in 2024 should guarantee genetic and genomic tests listed within it 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.

A new section, “Hepatic diseases,” was added, including 24 tests for multiple hepatic diseases; some examples of diseases are provided below (studied genes or regions are shown in brackets):

• Primary bile acid synthesis disorders (ACOX2, AKR1D1, AMACR, BAAT, CYP27A1, CYP7B1, HSD3B7, SLC10A1, TJP2);
• Benign recurrent intrahepatic cholestasis (ABCB11, ATP8B1);
• Alpha-1 antitrypsin deficiency (SERPINA1);
• Polycystic liver disease (ALG8, DNAJB11, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, SEC63);’
• Wilson’s disease (ATP7B).

Currently, the Catalog is comprised of 873 tests.

See the full details in Spanish here.

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