Insights Whole Exome Sequencing (WES) guide for patients and families Apr 12, 2018 Guide This guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Insights What to consider when choosing sponsored testing for your patient with an inherited retinal disease? Dec 04, 2019 My Retina Tracker What to consider when choosing sponsored testing for your patient with an inherited retinal disease? This article aims to provide insights about why different quality aspects matter, including the importance of covering difficult-to-sequence regions, as well as having explicit information regarding patient data privacy. Read more
Insights New and Improved Cardiology Panels Nov 28, 2019 In October, a total of 86 new genes were added to 16 updated cardiology panels. The update takes into account the latest findings in the field and customer requests in order to meet the needs of providers, and increase the diagnostic potential of panels. Read more
Insights Copy Number Variant (CNV) Detection at Blueprint Genetics Sep 16, 2019 CNVs are becoming increasingly recognized as an important cause of many genetic diseases. Read more
Insights Case Report: The Power of NGS-based CNV Analysis within an Exome Apr 04, 2019 Case report This case report describes a young adult who presented as an infant with feeding difficulties, growth retardation, recurrent infections, dysmorphic features and multiple congenital anomalies including bilateral coloboma and bilateral choanal atresia. Read more
Insights Case Report: A Diagnostic Odyssey Solved Apr 04, 2019 Case report This case report describes a 5-month-old male, with over a dozen different investigations without a diagnosis, who presented with hypotonia, neonatal hypoglycemia, a sacral vestigial tail, and reflux. Read more
Insights Case Report: Enhanced Diagnostic Performance for PKD1 Apr 04, 2019 Case report This case report describes a 32-year-old female who was diagnosed with bilateral renal cysts at 16 years of age. Read more
