Blueprint Genetics introduces one of the most comprehensive NGS offerings on the market

Published on March 16, 2016

We are now offering one of the most comprehensive clinical-grade NGS offerings on the market. Our new portfolio consists of over 400 panels covering more than 2,000 genes providing gapless sequencing and high quality medical statements.

The testing options include targeted NGS panels by Sequence Analysis, Targeted Del/Dup CNV Analysis and Plus Analysis that combines the Sequence Analysis and Del/Dup Analysis. For our panels we utilise an optimal method for detecting each type of variation as unique patented OS-Seq technology is used for detecting SNPs and small indels, whereas Del/Dup testing is performed with genome based sequencing technology. All of the tests have a fast turnaround time of 21 days and the pricing of the NGS panels is $1,500 on average.

In addition to proband testing, we provide family member testing and a free-of-charge VUS clarification service where appropriate. We also have an express service with a turnaround time of 7-10 days available for all tests at an extra cost.  Clinical genetics support is available with access to physicians, geneticists and genetic counsellors.

The new offering was presented at ACMG on March 9th, and the tests will now be introduced to the market over the next months. The tests cover 14 different medical specialties altogether: cardiology, pulmonology, gastroenterology, dermatology, ear, nose & throat, ophthalmology, nephrology, hematology, immunology, endocrinology, neurology, metabolic disorders, malformations (which include skeletal malformations) and hereditary cancer. 

“We are very excited to introduce an expansive test menu to the market. During the past three years we’ve been working with hereditary cardiovascular disorders, and the feedback from the clinical community encouraged us to expand to all medical specialties, so here we are” says Tommi Lehtonen, CEO of Blueprint Genetics.

Our new websites offer more detailed information about our offering and test menu as well as a clear pricing. 

Blueprint Genetics

Last modified: 03.16.2016


Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor

Published on December 5, 2018

Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce…

Read more

Subscribe to our newsletter