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Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders

Recruiting
2-17 years
All
Phase N/A
  • Technical (Original)
  • Simplified (AI rewritten)

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Overview

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 Criteria:

  • subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)

Exclusion Criteria:

  • none

Study details
    Neurodevelopmental Disorder (Diagnosis)

NCT06347562

IRCCS Eugenio Medea

13 April 2024

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