Neurodevelopmental Disorder (Diagnosis)
Conditions
Brief 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)
Interventions
GENETICOptical Genome Mapping
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
Sponsors
IRCCS Eugenio Medea
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
2 Years to 17 Years
Healthy volunteers
No
Inclusion criteria
* subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic concordance rate | 30 months | percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance |
Countries
Italy
Outcome results
None listed