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.


Our panels include over 2600 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 200 panels cover 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 by adding genes from our single gene list or by removing genes from the selected panel. Our single gene list contains 2,526 genes with ≥99.5% of base pairs (bp) covered at ≥20x.

The great majority of tests are completed within 28 days. However, Flex panels (customized) currently may take 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).

Our test menu includes 2526 single genes. We offer single gene testing as PLUS analysis (a combination of Seq & Del/Dup).

The normal TAT for all single gene tests is 3-4 weeks.