The Laboratory is a referral center, for the North-East Italian territory, for molecular diagnostics of neurodevelopmental conditions.
In particular, the diagnostic activity covers Intellectual Disability/Autism spectrum disorders, Epileptic encephalopathies of the first year of life/childhood epilepsy, Cerebral Palsy and Infantile Movement Disorders and Hereditary Sensorineural Hearing Loss.

The laboratory members have a long and well established experience in the development and validation of molecular strategies and protocols for genetic analysis of rare pediatric disorders and work in close collaboration with the clinical component of the Women’s and Children’s Health Department. Several translational research programs have been carried on and are currently ongoing with the aim at studying the biological bases of neurodevelopmental genetically heterogeneous conditions in particular intellectual disability associated with autism and early onset epilepsy.
Conventional methods of molecular genetic analysis have been replaced in the laboratory by the application of Next Generation Sequencing technology, in order to develop new and more efficient diagnostic tools. The laboratory provides NGS analysis of the following customized targeted gene panels: EIEE/early epilepsy; ID/ASD ; SNHL and Tuberous Sclerosis. A Cerebral Palsy- Infantile Movement disorders targeted panel has been developed and is in the process of being implemented in clinical activity.
Areas of interest: Neurodevelopmental disorders, Intellectual Disability/Autism Spectrum Disorders, Early Onset Epilepsy; Cerebral Palsy and Infantile movement disorders, Hereditary Deafness.

Major Lab Equipment:
NGS platform: Ion Torrent PGM/S5; 20 Terabite Archive drive. Automatic sequencer ABI PRISM 3130 Genetic Analyzer; Quantitative PCR ABI PRISM 7000, Nucleic Acids automated extractor Promega Maxwell 16 IVD. GelDOC Biorad.
Prof. Alessandra Murgia (vice-representative for Padua AOP) and the laboratory staff participate in the ERN-ITHACA (European Reference Network For Rare Congenital Malformations and Intellectual Disability).
Fragile X program: the Laboratory is a nationally recognized center for Fragile X molecular testing. Prof. Alessandra Murgia, has coordinated one of three Italian centers ever involved in international pharmacological trials for Fragile X Syndrome (AFQ, Novartis).
In January 2014, the “Multidisciplinary Fragile X Padua Network” has been founded, as the first and only Italian initiative of integrated clinical activity for Fragile X Syndrome and Fragile X- Associated conditions (http://www.sdb.unipd.it/centro-x-fragile).
The Multidisciplinary Fragile X Padua Network is officially recognized as center of excellence by the Italian Fragile X Syndrome Association; it is member of the International FXTAS Consortium.