Test menu

Blueprint Genetics is changing diagnostics by providing accessible and actionable genetic diagnostics in all medical specialties. We want to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases. We do that by delivering answers using fast, affordable and comprehensive genetic diagnostics.

NEW: PANELS UPDATED

Our new updated panels include over 660 added genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

Our test menu includes over 200 panels covering all medical specialties. We offer Sequence Analysis, Targeted Del/Dup (CNV) Analysis, and Plus Analysis (a combination of Seq & Del/Dup) for all panels. Panels can be customized (Flex panels) by adding genes from our single gene list or by removing genes from the selected panel.

Our standard TAT for diagnostic panels is 3-4 weeks and for the Flex panels (customized) we currently reserve approximately 2 weeks longer for the analysis.

Whole Exome Sequencing (WES) provides an effective discovery approach to diagnostics in a large variety of genetic disorders. WES is particularly useful for patients suffering from complex genetic disorders where selecting an optimal diagnostic panel is difficult, a panel is not available, or where previous genetic testing has been negative.

We offer four types of high-quality WES tests with TAT of 8-10 weeks.

Blueprint Genetics provides efficient testing to family members of the probands (index patients) that have previously been or are currently analyzed at Blueprint Genetics. We provide family members with mutation-specific Sanger tests (1-3 mutations).

Last modified: 04.10.2018