The Discover DysplasiasTM 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?
- Review the eligibility criteria of the program
- Complete the program’s paper requisition form and send to us by land mail, fax, or when sending the sample
- 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
- 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 email@example.com.
Nucleus online ordering for the Discover Dysplasias program will open in the coming months.