Optical genome mapping

What is optical genome mapping?

Optical genome mapping (OGM) is a high-resolution (approximately 500 bp) new method at the interface of cyto- and molecular genetics. Using OGM (Bionano Genomics, Inc.), native ultra-high molecular weight genomic DNA is visualized without amplification using fluorescent dye.

Optical genome mapping vs. conventional methods

OGM combines the advantages of conventional karyotyping, FISH and molecular cytogenetics (chromosome microarray analysis). This enables genome-wide detection of unbalanced and balanced structural variants as well as breakpoints at higher resolution and precision. It allows the identification of causes even in those patients with rare genetic diseases where this is difficult or impossible with other techniques.

When is optical genome mapping useful?

• When a cytogenetic aberration (deletion, duplication, inversion, insertion, fusion) is suspected.
• To exclude balanced translocations in reproductive medicine
• In unsolved cases with a suspected genetic cause of disease
• For fine mapping of known cytogenetic aberrations
• If a repeat diseases is suspected (e.g. facio-scapulo-humeral muscular dystrophy (FSHD), fragile X syndrome, myotonic dystrophy)

OGM does not detect Robertsonian translocations, and it also provides no sequence information and limited information on centromere and telomere regions. To date, OGM has been limited to postnatal analyses.

Optical Genome Mapping at Bioscientia

With our state-of-the-art laboratory, qualified staff and outstanding expertise in molecular genetics, bioinformatics and medicine, we offer both sophisticated diagnostics and interpretation of findings as well as comprehensive and individual genetic counseling.