Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders
Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
IRCCS Eugenio Medea
58 participants
Jun 15, 2022
INTERVENTIONAL
Conditions
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)
Eligibility
Inclusion Criteria1
- subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
Exclusion Criteria1
- none
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06347562