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Pediatric Genetics
A comprehensive portfolio of advanced genetic tests to provide highly specialized support to pediatricians, for management of patients with known or suspected genetic disorders.
It is an advanced genetic test that allows you to carry out Whole Exome Sequencing (WES), i.e. the sequencing of the entire human exome. It represents one of the most complete tests for the identification of pathogenic DNA mutations, causing numerous genetic diseases of various nature. The test identifies such mutations by focusing on the exome, the most informative regions of the genome.
An advanced and innovative genetic test that, using NGS technique, allows identification of mutations in 93 genes related to syndromes and characteristics associated with the autism spectrum (ASD).
An advanced postnatal genetic screening test that analyzes the newborn's DNA, collected through a simple buccal swab, to identify mutations related to more than 200 diseases, and provides personalized genetic information on the metabolism of more than 30 drugs. The test helps parents and pediatricians to identify proactive measures to prevent damage caused by the late diagnosis of diseases already present at birth.
