Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort

UnknownOBSERVATIONAL
Enrollment

1,000

Participants

Timeline

Start Date

November 30, 2020

Primary Completion Date

March 31, 2024

Study Completion Date

June 30, 2024

Conditions
Developmental DisabilityIntellectual DisabilityAutism Spectrum DisorderCongenital AnomalyFragile X SyndromeFacioscapulohumeral Muscular Dystrophy 1
Interventions
OTHER

Standard of care genetic testing group

N/A - no intervention as this is an observational study.

Trial Locations (8)

10032

ACTIVE_NOT_RECRUITING

Columbia University Irving Medical Center, New York

14586

ACTIVE_NOT_RECRUITING

DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center, West Henrietta

29646

RECRUITING

Greenwood Genetic Center, Greenwood

30328

ACTIVE_NOT_RECRUITING

Praxis Genomics, Atlanta

30912

ACTIVE_NOT_RECRUITING

Augusta University Research Institute, Augusta

52242

ACTIVE_NOT_RECRUITING

University of Iowa Hospitals & Clinics, Molecular Pathology, Iowa City

53226

ACTIVE_NOT_RECRUITING

Medical College of Wisconsin, Milwaukee

84109

RECRUITING

Lineagen (A Bionano Genomics Company), Salt Lake City

Sponsors

Lead Sponsor

Collaborators (1)

All Listed Sponsors
collaborator

University of Rochester

OTHER

collaborator

Columbia University

OTHER

collaborator

Greenwood Genetic Center

OTHER

collaborator

Praxis Genomics

UNKNOWN

collaborator

Augusta University

OTHER

collaborator

Medical College of Wisconsin

OTHER

collaborator

University of Iowa

OTHER

lead

Bionano Genomics

INDUSTRY

NCT05295277 - Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort | Biotech Hunter | Biotech Hunter