Status:
UNKNOWN
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
Lead Sponsor:
Bionano Genomics
Collaborating Sponsors:
University of Rochester
Columbia University
Conditions:
Developmental Disability
Intellectual Disability
Eligibility:
All Genders
Brief Summary
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type o...
Detailed Description
Optical genome mapping (OGM) is an emerging next-generation cytogenomic tool that enables a comprehensive analysis of structural variants (SVs) in the genome. OGM, in its current iteration, is perform...
Eligibility Criteria
Inclusion
- Individual with a genomic aberration identified by CMA, karyotyping, Southern blot analysis, PCR, FISH, and/or NGS or other standard of care (SOC) genetic testing technology whose clinical test results are available to compare with results from OGM.
- Patients with prior negative SOC genetic testing results whose results are available to compare with results from OGM.
Exclusion
- Any individual who opted-out of research at the testing laboratory.
- An individual whose genetic test contains the following variants: pathogenic sequence variants, abnormalities involving acrocentric p-arms and centromeres, below 20% for mosaicism, and tetraploidy.
Key Trial Info
Start Date :
November 30 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 30 2024
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT05295277
Start Date
November 30 2020
End Date
June 30 2024
Last Update
August 7 2023
Active Locations (8)
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1
Praxis Genomics
Atlanta, Georgia, United States, 30328
2
Augusta University Research Institute
Augusta, Georgia, United States, 30912
3
University of Iowa Hospitals & Clinics, Molecular Pathology
Iowa City, Iowa, United States, 52242
4
Columbia University Irving Medical Center
New York, New York, United States, 10032