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GrandOmics Biosciences Offers Genetic Test Using the Saphyr System for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) in China
SAN DIEGO, Oct. 19, 2018 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets Saphyr, a platform for ultra-sensitive and ultra-specific structural variation detection in genome analysis and GrandOmics, China's first third-generation sequencing service provider and the first third-generation sequencing based precision medicine company, announced at the 2018 annual meeting of the American Society of Human Genetics in San Diego that GrandOmics started offering a genetic test for facioscapulohumeral muscular dystrophy (FSHD) in China that is based on Bionano’s Saphyr system.
FSHD is the third most common form of muscular dystrophy and affects approximately 1 in 20,000 individuals worldwide. FSHD 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. Sequencing based methods cannot distinguish between the different copies, and typically fail to differentiate between a similar repeat on chromosome 10 that’s not involved in the disease. To date, molecular diagnoses for FSHD are generated using outdated Southern Blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use.
Bionano genome mapping on Saphyr allows for a precise measurement of the chromosome 4 repeat on long, single molecules spanning the entire repeat array, and for the detection of possible mosaicism for this disease locus.
Depeng Wang, CEO of GrandOmics, commented that “We are pleased to offer a novel genetic test for FSHD and address an important unmet need in China. We believe that the test will serve a broad patient population and will specifically be attractive as a carrier screening supporting people with a FSHD family history. Bionano’s Saphyr system is the ideal system for the precise detection of the complex FSHD genotype.”
Erik Holmlin, Ph.D., CEO of Bionano, said, “We are very excited at Bionano to see GrandOmics launched a genetic test for FSHD using Saphyr. This represents the first diagnostic test using Bionano’s technology in China. We will continue to address additional unmet needs with GrandOmics in the China market.”
About GrandOmics Biosciences
GrandOmics Biosciences Co., Ltd, China's first third-generation sequencing service provider and the first third-generation sequencing based precision medicine company, has adopted to the latest Bionano Genomics Saphyr platform, in addition to six PacBio Sequel and twenty-two Oxford Nanopore GridION/PromethION platforms. The company has many years of experience in researches and genetic diagnostic developments that based on third generation sequencing technology. In 2015, the company completed the first Chinese reference genome project using third generation sequencing technology. In 2016, the company completed the technology development on diagnosis of repeat expansion disorders, and is currently working on the construction of 10K Chinese Structural Variations Database (dbSV), and will dedicate to the technical development of NIPT soon.
About Bionano Genomics
Bionano is a life sciences instrumentation company in the genome analysis space. The Company develops and markets the Saphyr system, a 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 comprises an instrument, chip consumables, reagents and a suite of data analysis tools.
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