GM1 Gangliosidosis Test

The GM1 Gangliosidosis Test provides a high quality read-out of all exons of GLB1 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 GM1 Gangliosidosis Test has undergone rigorous validation process during its evolution at Blueprint Genetics. Our unique sequencing technology combined with inhouse built bioinformatics pipeline with GM1 Gangliosidosis mutation and knowledge database, together with our experienced team of geneticists and clinicians, enables efficient diagnostics for GM1 Gangliosidosis 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 GM1 Gangliosidosis patients and their families.