Genomic Profiling of Genetic and Rare Diseases

Inclusion Criteria: * Age 0-90 years * Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis * Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition * Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results * Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway. Exclusion Criteria: * Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.