Blueprint Genetics

17/03/2026

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

09/03/2026

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/

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...

06/03/2026

At Blueprint Genetics, we follow a genotype-first approach for variant interpretation. This means that we do not filter out any variants from analysis based on the patient’s phenotype. By utilizing this approach, we are able to avoid missing relevant variants and help you provide the most accurate results for your patients.

Learn more: https://www.blueprintgenetics.com/resources/a-genotype-first-approach-to-wes/

05/03/2026

Interested in learning more about neurological and metabolic diseases? Join us for our talk titled “A practical approach to genetic testing in metabolic diseases,” led by our geneticist, Zuzanna Misiewicz, PhD.

When: March 6th, 16:05
Where: Centrum konferencyjne, West Gate

Looking forward to seeing you there!

Learn more: https://www.blueprintgenetics.com/events/the-15th-neurometabolic-school-conference/

15/01/2026

There can be significant phenotypic overlap between immunological and hematological disorders. Patients with these clinical presentations may benefit from the Blueprint Genetics Comprehensive Immune and Cytopenia panel, which combines all genes in our immunology portfolio with genes from select hematology panels. This testing can assess for an underlying genetic cause, which is crucial for implementing personalized surveillance and treatment options.

Learn more:
https://www.blueprintgenetics.com/tests/panels/hematology/comprehensive-immune-and-cytopenia-panel/

20/11/2025

Join our educational on Nov 27 at 5:00 PM CET titled ‘Genes, Panels, and Patients: A Practical Approach to Genetic Testing in Cystic Kidney Disease.’

In this webinar, Alicia Scocchia, MS, CGC, will review the use of genetic testing in individuals with cystic kidney disease and pose considerations for genetic test selection, based on published literature and the experience of Blueprint Genetics.

Webinar Objectives:
🧬 Define the monogenic contribution to cystic kidney disease and review the value of genetic testing for this clinical indication
🧬 Summarize key findings from a retrospective study of patients receiving panel testing at Blueprint Genetics and compare them to recent literature
🧬 Discuss features to consider when assessing panel test options for cystic kidney disease

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

Sign up today: https://www.blueprintgenetics.com/resources/genes-panels-and-patients-a-practical-approach-to-genetic-testing-in-cystic-kidney-disease/

16/10/2025

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/

13/10/2025

Join our educational on Oct 23 at 5:00 PM CEST titled ‘Empowering Precision Medicine: The power of WES and mitochondrial DNA analysis.’

In this webinar, Dr Kirsty Wells, Senior Geneticist, and Dr Raquel Pérez, Geneticist, from Blueprint Genetics will explore the power of high-quality whole-exome sequencing and mitochondrial genome testing for challenging cases.

Webinar Objectives:

🧬 Share experience of utilizing an optimized WES assay, which includes almost 2000 clinically relevant noncoding variants, small CNV detection, and enhanced coverage of challenging regions, and discuss the power of a genotype-first approach and the importance of skilled interpretation

🧬 Demonstrate the advantages of integrating mtDNA analysis into WES.

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/empowering-precision-medicine-the-power-of-wes-and-mitochondrial-analysis/

23/09/2025

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/

22/07/2025

One key component of our commitment to providing quality genetic testing is to look deeper into technically challenging but clinically important genes and regions not covered by many standard NGS workflows. These technically challenging genes can be responsible for a significant proportion of genetic diseases.

One such gene is RPGR, which accounts for 10–20% of all retinitis pigmentosa diagnoses. The ORF15 exon is a known hotspot for disease-causing variants but is challenging to sequence. Despite its relevance, ORF15 is often excluded because of these challenging regions. At Blueprint Genetics, our aim is to include these challenging regions, increasing the likelihood of detecting pathogenic variants in genes such as RPGR.

Learn more: https://blueprintgenetics.com/news/difficult-sequence-genes-ophthalmology-improved-sequencing-coverage-mapping-quality-orf15-enable-unmatched-diagnostic-yield-xlrp/

26/06/2025

Join our educational on July 2 at 7:00 PM CEST titled ‘Ehlers-Danlos syndrome: Reviewing the diagnostic utility of genetic testing for EDS.'

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissue, primarily skin, joints, and blood vessel walls. These syndromes are caused by genetic mutations in genes involved in collagen production or function, leading to weaker and more stretchy connective tissues. The inheritance patterns can vary, with some types being autosomal dominant and others autosomal recessive. In this webinar, Professor Clair A. Francomano will discuss the various forms and inheritance patterns of EDS, and review the diagnostic utility of genetic testing for EDS.

Webinar Objectives:
🧬 Discuss the various forms and the inheritance patterns of Ehlers-Danlos syndrome
🧬 Review the diagnostic utility of genetic testing for Ehlers-Danlos syndrome

Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience

Sign up today: https://blueprintgenetics.com/resources/ehlers-danlos-syndrome-reviewing-the-diagnostic-utility-of-genetic-testing-for-eds/

05/06/2025

A family history of cancer can indicate a genetic predisposition. The Blueprint Genetics Comprehensive Hereditary Cancer Panel offers broad coverage of genes associated with inherited cancer syndromes, including breast, ovarian, colorectal, prostate, and more.

This panel includes:

✔ Both sequence and copy number variant (CNV) detection
✔ Disease-associated noncoding variants
✔ Break-point analysis to detect structural variants, like coding region Alu-insertions, often missed by target capture methods
✔ Results in 4 weeks

Learn more: https://blueprintgenetics.com/tests/panels/hereditary-cancer/comprehensive-hereditary-cancer-panel/