Molecular information firm Courtagen Life Sciences has introduced a new genetic test, lysoSEEK, which will allow early detection of genes associated with potentially treatable lysosomal storage disorders.
According to the company, lysosomal storage disorders are part of the differential diagnosis of several, diverse perinatal and childhood phenotypes that are extremely variable in both onset and clinical severity.
Courtagen Life Sciences CEO Brian McKernan said: "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.
"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."
The new genetic test is said to offer an extensive genetic analysis and clinical interpretation of data produced by the complete sequencing of 94 genes associated with close to 60 metabolic disorders.
It will search for enzymatic deficiencies in the lysosomes and looks at additional genes useful for differential diagnoses.
Courtagen uses genomic data to generate actionable clinical information for the diagnosis of critical pediatric neurological and metabolic disorders.