In this talk, Dr Wells will demonstrate how high quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases. Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting.
In this webinar Ville Kytölä, Director of Bioinformatics Engineering and Mikko Muona, PhD, Senior Bioinformatics Manager from Blueprint Genetics will discuss how to evaluate WGS and WES services, understand key technical and operational criteria to ensure that sequencing projects achieve high-quality, reproducible results.
In this webinar, Professor Clair A. Francomano will discuss the various forms and inheritance patterns of EDS, and review the diagnostic utility of genetic testing for EDS.
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.