WOBURN, Mass.--(BUSINESS WIRE)--Courtagen Life Sciences, Inc., an innovative molecular information company, announced today the release of a new genetic test, lysoSEEK™, which is focused on early identification of genes associated with potentially treatable lysosomal storage disorders.
“Our new tests take advantage of recent advances in next generation sequencing technology, and enable new opportunities to elucidate genetic causes and guide treatment to improve the patient’s quality of life.”
Lysosomal storage disorders are part of the differential diagnosis of several, diverse perinatal and childhood phenotypes, which are extremely variable in both onset and clinical severity. Prompt diagnosis, including genetic testing, may enable early treatment (e.g. enzyme replacement therapy), possibly preventing irreversible clinical consequences.
Courtagen’s lysoSEEK™ panel provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 94 genes associated with close to 60 metabolic disorders. The test seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.
“Often diagnosis of such disorders is challenging due to the wide range of symptoms and severity. Multiple lines of evidence support that genetic factors play a pivotal role,” said Brian McKernan, Chief Executive Officer of Courtagen. “Our new tests take advantage of recent advances in next generation sequencing technology, and enable new opportunities to elucidate genetic causes and guide treatment to improve the patient’s quality of life.”
“Lysosomal storage disorders can present in diverse ways, such as neurological deterioration, facial/skeletal findings, or enlarged internal organs. Until now, testing for these conditions was only possible by individually ordering separate testing for each enzyme, which are not available for several of these conditions, or by sequencing all 22,000 genes in the DNA (exome); this is expensive, slow, and often provides unrelated (“incidental”) genetic information. Since early diagnosis is lifesaving in some cases, a reasonably-priced, rapid, and comprehensive test like lysoSEEK™ is needed,” said Richard Boles, M.D., Medical Director, Courtagen Life Sciences. “Now, any physician can order Courtagen’s test, and receive all of that information, and more, from a single saliva sample.”
About Courtagen Life Sciences, Inc.
Courtagen is a privately held life sciences and molecular information company that converts genomic data into actionable clinical information for the diagnosis of critical pediatric neurological and metabolic disorders. Specifically, Courtagen focuses on mitochondrial disorders, epilepsy, and intellectual disability, including autism spectrum disorders. Courtagen’s state-of-the-art Next-Generation Sequencing clinical laboratory integrates genotype, phenotype, and disease mechanism data using cloud-based computing and custom analytical methods to provide the most comprehensive results for clinicians, patients, and their families to better understand and treat their disease. More information can be found at www.courtagen.com.
Courtagen Life Sciences, Inc.
Mike Catalano, 877-395-7608
Mike.catalano@courtagen.com
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