The Recessive Genetic Screening Test employs next generation sequencing (NGS) technology for the detection of +4000 mutations described in the databases as the cause of +200 recessive diseases. This test combines the targeted analysis of prevalent point mutations (when they exist) in certain genes (138, of which 17 on the X chromosome) with scanning of the complete coding regions (72 genes, 2 on the X chromosome). The NGS also allows us to address the study of different types of mutations: single nucleotide, small insertions / deletions, copy number variants and certain rearrangements.