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Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders
Sponsor: IRCCS Eugenio Medea
Summary
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)
Official title: Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
Key Details
Gender
All
Age Range
2 Years - 17 Years
Study Type
INTERVENTIONAL
Enrollment
58
Start Date
2022-06-15
Completion Date
2025-06-14
Last Updated
2024-04-04
Healthy Volunteers
No
Conditions
Interventions
Optical Genome Mapping
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
Locations (1)
Scientific Institute E. Medea
Bosisio Parini, Lecco, Italy