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

Launched by BIONANO GENOMICS · Mar 15, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a new method called Optical Genome Mapping (OGM) to find specific changes in DNA that can cause various developmental and intellectual disabilities, like autism and fragile X syndrome. Researchers want to see how well OGM can detect these genetic changes compared to traditional tests that are currently used in clinics. They are looking for participants whose previous genetic tests have shown some abnormalities or, for those who had negative results, who are open to trying this new method.

To be eligible for the trial, individuals need to have had a prior genetic test that showed some kind of genetic change or, in some cases, a negative result. However, people who have opted out of research or have certain specific genetic variants won't be able to participate. If you join the study, you can expect to have your genetic information analyzed using OGM, and the results will be compared to your past test results. This research could help improve the way genetic conditions are diagnosed in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. 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.
• • 2. Patients with prior negative SOC genetic testing results whose results are available to compare with results from OGM.
• Exclusion Criteria:
• • 1. Any individual who opted-out of research at the testing laboratory.
• • 2. 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.