Publication Outlines Potential for Optical Genome Mapping with Bionano’s Saphyr System to be the Foundation of a New Workflow in Prenatal Genetic Testing - Seite 2

Global medical associations including ACOG, ISUOG, ACMG recommend prenatal testing for the detection and prevention of genetic disorders using cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH), and chromosomal microarray (CMA). Additionally, multiple molecular methods are used to identify repeat expansion and contraction disorders in routine clinical laboratories.

In this study OGM with Saphyr was used to detect a variety of genetic abnormalities in amniotic fluid and chorionic villus samples collected during pregnancy. The paper shows examples of how different OGM assays identified cases of trisomy 21 or Down syndrome, sex chromosome aneuploidy where additional copies of the X chromosome were present, DiGeorge syndrome, the most common microdeletion syndrome affecting about 1 in 4,000 births, a repeat expansion causing fragile X syndrome, and an unbalanced translocation in the fetus caused by a balanced translocation in the parent. The site-to-site reproducibility of the OGM prenatal workflow was also evaluated by analyzing 5 samples in replicates at two different sites, on different instruments, and with different operators, showing concordance across both sites.

The publication is available at https://www.mdpi.com/2073-4425/12/3/398/htm

About Bionano Genomics
Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionano’s Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit www.bionanogenomics.com or www.lineagen.com.