Blueprint Genetics

Blueprint Genetics provides comprehensive, high-quality genetic diagnostic solutions for inherited eye disorders:

🧬 Uniquely designed assay and confirmation methods offer 100% coverage of the difficult-to-sequence ORF15 region of RPGR
🧬 Inclusion of the mitochondrial genome in our Optic Atrophy Panel increases the diagnostic yield
🧬 ABCA4, covered in 6 of our panels, is a challenging but relevant gene in the molecular diagnosis of retinal diseases such as Stargardt disease and cone-rod dystrophies​

If you’re interested to learn more, please follow the link below to fill out our contact form, so that we can best support you.

Learn more: https://resources.blueprintgenetics.com/LP=28

The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes, clearly demonstrating the impact of advances in the phenotypic and genotypic understanding of these conditions.

At Blueprint Genetics, most of the genes described in the “Nosology of genetic skeletal disorders” can now be included by using our customization feature, when ordering a Comprehensive Growth Disorders/Skeletal Dysplasia and Disorders Panel for a patient.

Learn more about the publication: https://pubmed.ncbi.nlm.nih.gov/36779427/

Learn more about our panel customization: https://www.blueprintgenetics.com/customization-panels/

Nosology of genetic skeletal disorders: 2023 revision - PubMed The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versi...

Will you be attending the European Society for Medical Oncology from October 17-21, 2025, in Berlin, Germany? If so, stop by booth #2002 (Level 2, Hall 2.2) and meet our Executive Account Director, Daniela Albero, and Senior Account Manager, Kaarin Ahomaa, to learn about the latest developments at Blueprint Genetics!

Learn more: https://blueprintgenetics.com/events/european-society-for-medical-oncology/

Join our educational on Oct 1 at 5:00 PM CEST titled ‘Optimizing research outcomes: WGS and WES with Blueprint Genetics.’

In this webinar Ville Kytölä, Director of Bioinformatics Engineering, and Mikko Muona, PhD, Senior Bioinformatics Manager from Blueprint Genetics will discuss how to evaluate WGS and WES services, understand key technical and operational criteria to ensure that sequencing projects achieve high-quality and reproducible results.

Webinar Objectives:

🧬 Understand the key pillars of a high-quality sequencing service, including process reliability, partnership support, and technical excellence
🧬 Learn how to evaluate whole genome sequencing (WGS) and whole exome sequencing (WES) services to ensure high-quality and reproducible results for research projects

Unable to attend live, you will receive a link to a recording of the webinar to watch at your convenience.

Sign up today: https://blueprintgenetics.com/resources/optimizing-research-outcomes-wgs-and-wes-with-blueprint-genetics/