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

Status unconfirmed

Conditions studied: Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1

In brief

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 of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.

Key facts

Study ID

NCT05295277

Run by

Bionano Genomics

People needed

1000

Starts

2020-11-30

Expected to finish

2024-06-30

Last updated by the study team

2023-08-07

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• Lineagen (A Bionano Genomics Company) — Salt Lake City, Utah, United States (enrolling)
• Greenwood Genetic Center — Greenwood, South Carolina, United States (enrolling)
• University of Iowa Hospitals & Clinics, Molecular Pathology — Iowa City, Iowa, United States
• Columbia University Irving Medical Center — New York, New York, United States
• DNA Microarray CGH Laboratory, Department of Pathology, University of Rochester Medical Center — West Henrietta, New York, United States
• Praxis Genomics — Atlanta, Georgia, United States
• Medical College of Wisconsin — Milwaukee, Wisconsin, United States
• Augusta University Research Institute — Augusta, Georgia, United States

Full record on ClinicalTrials.gov

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