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 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.

The normal TAT for all panels is 3-4 weeks.

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).