Blueprint Genetics and BioMarin collaborate to launch a sponsored testing program for individuals with skeletal dysplasia in Europe and the Middle East

October 26, 2021

Launching in October 2021, the Discover Dysplasias® program offers access to no-cost genetic testing for individuals suspected of having an inherited skeletal dysplasia. The program aims to facilitate early detection and more precise diagnoses, which can lead to improved patient outcomes.

Skeletal dysplasia encompasses over 450 different types of heritable conditions affecting the skeleton, 92% of which have an identified underlying genetic cause.1 Although each condition is individually rare, collectively the birth incident can be as common as 1 in 5000 individuals. Due to significant phenotypic overlap among skeletal dysplasia, confirming a diagnosis for a patient can be very challenging. Early access to genetic testing can enable a prompt and accurate diagnosis, which can inform individualised treatment and management decisions.

“We have now entered an age where genetic testing is both accurate and accessible to all physicians and can truly be used as a tool together with the more traditional clinical and other laboratory investigations to determine the right diagnosis and thus the right treatment and/or management for the patient. Moreover, when used early – the patient journey to diagnosis may be significantly shortened and this is especially important in cases of rare diseases, like the mucopolysaccharidoses (MPSs),” says Erik Brouwer, BioMarin’s EMEA Executive Medical Director, Medical Affairs.

“An early molecular diagnosis can have considerable benefits for patients with skeletal dysplasia and is essential for optimizing care. Understanding the underlying genetic cause requires a comprehensive testing strategy for maximized diagnostic yield and clinical utility. We are pleased to offer our high-quality testing as part of this program and take another important step forward in our mission to broaden access to genetic knowledge,” says Blueprint Genetics Executive Director of Medical and Laboratory Director Juha Koskenvuo, MD, PhD.

Through this program, eligible individuals will have access to Blueprint Genetics comprehensive, 419-gene panel, which includes accurate detection of single nucleotide variants and the analysis of over 180 noncoding variants associated with skeletal dysplasia. The inclusion of high-resolution copy number variant (CNV) detection is also a vital feature of the panel: a recent study2 examining the genetic test results of 543 patients with suspected skeletal dysplasia found that CNVs accounted for more than 5% of diagnostic variants.

The program is available to physicians in certain countries in Europe and the Middle East. To be eligible, patients should have at least one of the following clinical features: signs or symptoms suggestive of skeletal dysplasia, disproportionate growth, dysmorphic facial features, or abnormal gait with joint pain.


Read more about the program at


About Blueprint Genetics
Blueprint Genetics, a Quest Diagnostics company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries.


About BioMarin
BioMarin is a global biotechnology company that develops and commercializes innovative therapies for patients with serious and life-threatening rare and ultra-rare genetic diseases. The company’s portfolio consists of seven commercialised products and multiple clinical and pre-clinical product candidates.
For additional information on BioMarin, please visit


Further information:
Saara Salonoja, Communications Manager,


  1. Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019;179:2393–2419. doi: 10.1002/ajmg.a.61366
  2. Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila, J, Sistonen J, Koskenvuo J, Alastalo T. (2021) Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia. Orphanet J Rare Dis. Published October 9, 2021. 2021;16(1):412. doi:10.1186/s13023-021-02025-7

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