Medical genetics of diseases of the developmental age LAB

The Laboratory of Medical Genetics of Diseases of the Developmental Age consists of two sectors: the Medical Genetics clinic and the molecular diagnostics laboratory, operating within CEINGE.

The estimate of the number of genetic consultations carried out is around 600 per year.

There are currently 28 different diagnostic lines, covering a wide range of pathological conditions (red blood cell pathologies, hyperbilirubinemias, congenital nephrotic syndromes, nephrogenic diabetes insipidus, cerebral arterial disease, etc.).

12 new lines are being activated, including, among others, the analysis by multigenic panels of oncological predisposition syndromes, hypogonadotropic hypogonadisms and rare hereditary anemia.

The diagnostic lines related to red blood cell pathologies have a recognized and documented national and international expertise. Over the years, many studies have been conducted on the pathogenesis of these anemias, leading to the identification of several causative genes of some of them.

As a National and International Reference Center for rare anemias, the laboratory receives diagnostic requests from all over the world. The Medical Genetics of Diseases of the Developmental Age is part of the European network of services of excellence (EuroBloodNet).