FSHD affects approximately one in 10,000 to one in 25,000 individuals worldwide. Type 1 (FSHD1) is the more common type of the disorder, and is caused by a smaller-than-normal D4Z4 region in chromosome 4. Normally, this region contains 11 to 100 repeated DNA segments. However, people with FSHD1 show a reduced number of repeats, one to 10, in this region.
So far, genetic testing for FSHD1 relied mostly on a technique called Southern Blot. This method is only offered by a few laboratories and provides a rough estimate of the size of the D4Z4 region.
PerkinElmer’s assay uses the Saphyr system from Bionano Genomics to perform whole genome optical mapping, a technique that creates a highly precise visual map of a person’s D4Z4 region. The method allows quantification of this region’s shortening with up to one repeat accuracy.
As such, it represents an alternative for patients suspected of having FSHD1 when they desire a confirmatory test.
“PerkinElmer Genomics is proud to be the first clinical laboratory to utilize this new technology from Bionano Genomics to validate and bring a new diagnostic assay for FSHD type 1 to market,” Madhuri Hegde, PhD, vice president and chief scientific officer of global lab services at PerkinElmer, said in a press release sent to BioNews Services (the parent company of Muscular Dystrophy News).
“In the past, many individuals have not been able to have confirmatory molecular testing despite classic clinical symptoms due to the limited testing options; we are excited to now be able to offer a new and more accessible option to providers and patients who are searching for the genetic cause of disease,” Hegde said.
Besides this test for FSHD1, PerkinElmer has developed a simple blood-spot-based test to diagnose Duchenne muscular dystrophy in newborns, which was recently authorized by the U.S. Food and Drug Administration.
The company plans to launch several other genetic tests to offer patients the ability to get a more comprehensive diagnosis of FSHD and other related neuromuscular disorders.
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