GENETIC DIAGNOSTICS OF INTELLECTUAL DISABILITY DISORDER, AUTISM SPECTRUM DISORDER AND EPILEPSY

摘要

This invention describes methodology of early diagnostics of developmental intellectual disorder (DID), autism spectrum disorder (ASD) and epilepsy either as a predisposition for said disorder or already developed disorder. Moreover, it describes new genetic markers linked to DID and ASD as well as diagnostic chip and methods of genetic diagnostics based on them. The invention comprises also panel of genes for diagnostics of epilepsy, that is the entire diagnostic system applicable in clinical diagnostics of DID, ASD and epilepsy.