Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders

to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders (NDDs) with/wo congenital anomalies (CA)

Inclusion Criteria:

• subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)

Exclusion Criteria:

• none