Discover Dysplasias®
Open access genetic testing program for individuals in Europe and the Middle East

The Discover Dysplasias®  program provides individuals suspected of having an inherited skeletal dysplasia access to high-quality genetic testing. Early access to testing can enable an accurate diagnosis, which can lead to improved patient outcomes.

Blueprint Genetics and BioMarin collaborate to offer a no-cost 419-gene panel for the diagnosis of the genetic cause of skeletal dysplasias. This program is available for individuals in certain countries in Europe and the Middle East who meet the eligibility criteria listed below in “Who Is Eligible for Testing.” The comprehensive testing strategy in this program offers increased potential for establishing a molecular diagnosis.

How to participate?

  1. Review the eligibility criteria of the program
  2. Complete the program’s paper requisition form and send to us by land mail, fax, or when sending the sample
  3. Order a free buccal swab kit with return shipment to our facility in Finland
    • When ordering sample collection kits to be shipped to your clinic or directly to your patient’s home, please indicate ‘Discover Dysplasias Program’
    • If selecting at-home sample collection, please notify your patient and ask to collect and ship back the sample as soon as possible
  4. Obtain the signed Genetic Testing Program Informed Consent (General Form) from the program participant or their parent/legal guardian

You can access the test results by logging in to your Nucleus account after receiving an email notification regarding completed test results. The great majority of panels are reported out in 28 days. If you need any assistance, please contact us at

Nucleus online ordering for the Discover Dysplasias program will open in the coming months.


Order a sample collection kit

Why select this test for your patient?

  • Rapid and comprehensive genetic testing for your patients: results in 4 weeks
  • A 419-gene panel that includes accurate detection of single nucleotide variants, high resolution copy number variant detection, and clinically relevant noncoding variants, all in a single test
  • Clinical reports created by a team of specialists who analyse results for thousands of patients with skeletal dysplasias annually
  • Clinical genetics support that is available in addition to our comprehensive clinical report
  • Secure testing for your patient provided through strict data privacy and data sharing policies

Who is eligible for testing?

The patient should:

  • Have at least one of the following clinical features:
    1. Signs or symptoms suggestive of skeletal dysplasia
    2. Disproportionate growth
    3. Dysmorphic facial features
    4. Abnormal gait with joint pain
  • Have given signed consent for this program
  • Live in Europe or the Middle East*

*To see the complete list of countries currently included in the program, please click here. Please note when ordering, there is a limitation of 5 requested sample collection kits per institution for the calendar year.

Why do genetic testing for skeletal dysplasias?

  • Genetic testing is an effective way to identify the underlying cause of a patient’s skeletal dysplasia
  • Early access to testing can enable a prompt and accurate diagnosis, which can lead to more targeted medical treatment
  • An accurate molecular diagnosis can also decrease the need for other medical tests and assist with family planning and risk stratification in the family

Terms and Conditions

The Program Terms for participating healthcare providers can be found here.

Data protection and sharing

  • Program participants’ samples and personal data will be processed only to the extent necessary to perform diagnostic testing and to share non-directly identifiable data with BioMarin. Further research use of the sample and data is voluntary and subject to a separate opt-in
  • All essential information on data sharing can be found on the Discover Dysplasias General Form. This form must be signed and returned to Blueprint Genetics. This form states:
    • Blueprint Genetics will only share deidentified patient data with a sponsor
    • Deidentified patient data is limited to the clinical diagnosis, age of the patient, sex, and variants with potential to be clinically significant. No identifiable patient information or raw data sequence data will be shared
    • Blueprint Genetics is authorised to share information about the hospital where the patient is treated. We will not share any details about the treating physician(s)
    • If separately consented, Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of inherited skeletal dysplasias. No samples or identifiable research data will be shared with third parties without express permission
  • All data will be processed and shared in accordance with the EU General Data Protection Regulation 2016/679. The anonymized variants found in this initiative will be shared in databases, such as ClinVar ( to help other patients around the world. These variants may also be listed in a scientific peer-reviewed publication about comprehensive genetic testing in skeletal dysplasias
  • Please see the full Program Privacy Notice here.

The program panel in short:

  • The panel in this program is based on the Comprehensive Skeletal Dysplasias and Disorders panel with an additional 8* genes added to this panel
  • It is a comprehensive, 419-gene panel that includes high-resolution CNV detection and the analysis of over 230 noncoding variants associated with skeletal dysplasias and not typically covered by standard genetic tests.
  • The panel is easily expanded to whole exome sequencing (WES) for an additional fee. Read more about Expand to Exome here


Family Member Testing

Testing family members for variants identified by this panel is available as part of our regular services.

Click here to find out more about Familial Variant Testing services provided by Blueprint Genetics.

About Blueprint Genetics

Blueprint Genetics is a genetic testing company focused on human rare disease, performing genetic testing for thousands of patients with skeletal dysplasias annually. With a patient-first mindset, the company has developed innovative genetic testing technologies to increase the diagnostic yield for patients with inherited disorders. Blueprint Genetics is a CLIA certified, CAP accredited, ISO15189 accredited next-generation sequencing laboratory and all offered panels have CE IVD marking. All testing and data storage related to the Discover Dysplasias Program are managed in our European facility in Helsinki. More information can be found at:


About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for people with serious and life-threatening rare diseases and medical conditions. The company selects product candidates for diseases and conditions that represent a significant unmet medical need, have well-understood biology and provide an opportunity to be first-to-market or offer a significant benefit over existing products. The portfolio consists of several commercial therapies and multiple clinical and preclinical product candidates.


Copyright © 2021 Blueprint Genetics. All trademarks are property of their respective owners. DISCOVER DYSPLASIAS is a trademark of BioMarin.

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Last modified: May 19, 2023