Comprehensive panel based approach to clinical genetics, with over 200 panels covering 14 medically relevant specialties

February 23, 2017

We are on a mission to challenge the standards of clinical genetic diagnostics to enable better patient care. Over the last 5 years we have developed unique sequencing technologies, in-house bioinformatics and interpretation solutions to improve rare disease genetic diagnostics. Without compromising quality and performance, our innovations are enabling more affordable genetic diagnostics with faster turn-around-times. Blueprint Genetics is transforming the market by providing top quality diagnostics and customer service with significantly reduced costs.


We offer hundreds of diagnostic tests for patients who exhibit rare hereditary diseases.

Blueprint Genetics offers one of the most comprehensive clinical-grade genetic testing offerings on the market. Our portfolio consists of over 200 panels covering more than 2,000 genes providing gapless sequencing and high quality medical statements. We offer panels in 14 medical specialties:

Cardiology, Dermatology, Ear-Nose-Throat, Endocrinology, Gastroenterology, Hematology, Hereditary Cancer, Immunology, Malformations, Metabolic Disorders, Nephrology, Neurology, Opthalmology, Pulmonology.

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 the Sequence Analysis and Targeted Del/Dup (CNV) analysis we utilise a unique patented OS-Seq technology. We also provide different whole exome sequencing tests and Whole Genome Del/dup (CNV) for patients with clinical suspicion of large chromosomal abnormalities or microdeletion/ microduplication syndromes. Read more about our methods here. All of the tests have a fast turnaround time and competitive pricing.

We want to provide easy, affordable and fast access to actionable results without ever compromising quality. We take pride in sharing data and being transparent about our sequencing quality and pricing. We provide the most comprehensive clinical-grade NGS offering on the market and distinguish ourselves with gapless sequencing and high-quality medical statements.

We look forward to helping you find the optimal testing strategy to fit your genetic diagnostics needs.


Blueprint Genetics

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