Expanding NGS Data with Optical Genome Mapping (OGM)
Recruiting
N/A
Interventional Study
Neurodevelopmental Disorder (Diagnosis)
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 2 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Diagnostic
- Participants needed
- 60 (estimated)
- Sponsor
- IRCCS Eugenio Medea · Other
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About This Trial
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. New sequencing technologies are crucial for clinical decision-making, offering complete profiles of variants in a patient's DNA…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* individuals without a molecular diagnosis (negative to ES/CMA analyses);
* individuals with genetic diagnoses that explain only one component of their primary phenotype;
* individuals carrying one or more variants of uncertain clinical significance
* individuals with a phenoty…
Contacts