Claritas Genomics Launches Next Generation Sequencing Panel
Product News Sep 13, 2014
Claritas Genomics has announced the availability of a next-generation sequencing assay that investigates 28 genes that represent single-gene causes of pediatric steroid-resistant Nephrotic Syndrome.
The assay was developed in collaboration with a laboratory at Boston Children’s Hospital that has been studying the underlying genetic causes of many types of pediatric kidney disorders for several decades.
“We are confident that ClariFocus Panel: Nephrotic Syndrome should be the first choice for clinicians who have patients with features of steroid-resistant Nephrotic Syndrome,” explains Dr. Patrice Milos, Chief Executive Officer of Claritas. “This panel covers more genes than any other pediatric kidney disorder panel currently on the market. We expect to see a detection rate of over 60% in newborns diagnosed clinically with steroid-resistant Nephrotic Syndrome and an average detection rate for all age groups of around 30%. These ranges are well above the approximately 20% diagnostic yield for sequencing of NPHS2 alone, a gene that is often sequenced first when patients present with high levels of protein in the urine. Now clinical providers can look at many potential causative genes at once, instead of undertaking the inefficient and expensive process of sequential single gene testing.”
Patients with nephrotic-range proteinuria (protein in the urine), with steroid-resistant nephrotic syndrome, with histological features of focal segmental glomerulosclerosis, or patients who have received negative sequencing results for one or more genes related to the NS phenotype may benefit from this assay.
“The basis for this assay is the many years of research in our expert collaborator’s laboratory. The assay’s effectiveness and detection rates are a testament to the quality, consistency and comprehensiveness of that research,” said Dr. Milos. “Our collaboration is a great example of how the partnership between Claritas Genomics and experts at the pediatric hospitals can bring the benefits of their knowledge and expertise to many more patients and families.”
ClariFocus Panel: Nephrotic Syndrome joins the Claritas menu of over 100 tests, including ClariView Exome for Pediatric Neurology, Sanger assays, next generation sequencing panels, and the ClariView Array, a microarray designed for patients with autism, developmental delay, or intellectual disability.