Becker and Duchenne Muscular Dystrophy Test

The Becker and Duchenne Muscular Dystrophy Test provides a high quality read-out of all exons of DMD gene. 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 Becker and Duchenne Muscular Dystrophy Test has undergone rigorous validation process during its evolution at Blueprint Genetics. Our unique sequencing technology combined with in-house built bioinformatics pipeline with Becker and Duchenne muscular dystrophy mutation and knowledge database, together with our experienced team of geneticists and clinicians, enables efficient diagnostics for Becker and Duchenne muscular dystrophy patients. 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 to improve future diagnostics (ClinVar; http://www.ncbi.nlm.nih.gov/clinvar/). Our mission is to improve the quality of diagnostics and management of Becker and Duchenne muscular dystrophy patients and their families.