Periodic Fever Panel

The Periodic Fever Syndrome Panel provides a high quality read-out of all clinically relevant genes associated with hereditary fever. 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 Periodic Fever 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 periodic fever mutation and knowledge database, together with our experienced team of geneticists and clinicians, forms the most efficient periodic fever 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 periodic fever 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 periodic fever syndrome patients and their families.