Blueprint Genetics will be attending the AES 2018 Annual Meeting.
AES 2018 is the largest gathering on epilepsy in the world. Attendees will have access to the exhibit hall, sessions, hands-on workshops, specialty education, and poster sessions. Whether you are new to the field or a seasoned veteran, you will find educational programming relevant to your needs.
Learn more here.
Visit us at Booth #208 at AES 2018 to learn more about the exciting advances happening at Blueprint Genetics-
- Whole exome sequencing is a diagnostic tool for patients with complex genetic disorders, where the correct diagnosis is difficult to determine due to overlapping phenotypes, complicated medical histories, and/or previous genetic testing which has not yielded conclusive results.
- Our comprehensive epilepsy panel is a 283 gene panel that includes assessment of non-coding variants and is ideal for patients with epilepsy. Epilepsy is of the most common neurological conditions and defined by recurrent, unprovoked seizures due to abnormal, synchronized neuronal firing in the brain.
- The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants.
- All our panels are sliced from whole exome sequencing data. Panels can be customized by adding genes from the single gene list or by removing genes from the selected panel. The Single Gene list contains 2,526 high quality genes with ≥99.5% of base pairs (bp) covered at ≥20x.
- If your patient’s previous genetic testing (panel, single gene test) is inconclusive or there is a diagnostic finding that doesn’t explain the whole phenotype, you can provide your patient with the most comprehensive genetic test by expanding to whole exome sequencing.