Pulmonary Arterial Hypertension (PAH) Panel

The PAH Panel provides a high quality read-out of all genes with well-established association to pulmonary arterial hypertension. Our OS-SeqTM technology provides high coverage clinical grade sequencing and enables reliable diagnostics for PAH patients with significantly lower costs and faster turnaround time (basic service TAT 21 days and Express service TAT 7-10 days). The PAH Panel has undergone rigorous validation process during its evolution at Blueprint Genetics. Our unique sequencing technology combined with in-house built bioinformatics pipeline with pulmonary arterial hypertension mutation and knowledge databases, together with our experienced team of geneticists and clinicians, forms the most efficient PAH diagnostics service in the market. Our variant classification schemes and clinical interpretation processes have been developed and validated with thousands of patients with hereditary cardiovascular disease. Blueprint Genetics publically shares all classified variants identified in pulmonary arterial hypertension 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 PAH patients and their families.