Nephrotic Syndrome Panel

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چکیده

The Nephrotic Syndrome Panel provides a high quality read-out of all clinically relevant genes associated with nephrotic syndrome. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and express service TAT 7-10 days). The Nephrotic Syndrome Panel has undergone rigorous validation process during its evolution at Blueprint Genetics. Our unique sequencing technology combined with in-house built bioinformatics pipeline with nephrotic syndrome mutation and knowledge database, together with our experienced team of geneticists and clinicians, forms the most efficient nephrotic syndrome diagnostics service in the market. Our variant classification schemes and clinical interpretation processes have been developed and validated with thousands of patients with hereditary disease. Blueprint Genetics publically shares all classified variants identified in nephrotic syndrome patients to improve future diagnostics (ClinVar; http://www.ncbi.nlm.nih.gov/clinvar/). Our mission is to improve the quality of diagnostics and management of nephrotic syndrome patients and their families.

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