Bionano genomics, inc announces adoption of its saphyr® system by clinical cytogenetics groups in academia and industry to replace traditional methods for clinical testing

Bionano genomics, inc. announced that leading organizations, including perkinelmer genomics and the university of iowa, have adopted saphyr for use in their clinical genomics laboratories.  perkinelmer genomics and the university of iowa have developed assays based on the bionano optical mapping technology to expand their comprehensive suite of genetic tests assessing disease-associated chromosomal abnormalities. their lead indication is facioscapulohumeral muscular dystrophy (fshd). fshd is one of the most prevalent forms of muscular dystrophy and affects approximately 1 in 10,000 individuals. it is caused by changes in the number of repeats in a section of chromosome 4. to correctly diagnose fshd, an exact count of the repeat number is necessary. to date, molecular diagnoses for fshd are generated using outdated southern blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use for safety reasons. in contrast, the assays developed by perkinelmer genomics and the university of iowa with the bionano enfocus™ fshd analysis tool are reproducible, safe, fast, and automated with minimal hands-on time. these assays provide an exact repeat number for the pathogenic and non-pathogenic variants, give a high-resolution view of the repeat regions and have a high sensitivity to mosaicism.
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