FGFR3 Genetic Testing Program

FGFR3 Genetic Testing  Program provides patients suspected of or having a clinical diagnosis of achondroplasia access to high-quality genetic testing. The goal is to confirm diagnosis of achondroplasia by genetic testing.

Blueprint Genetics and BioMarin collaborate to offer a no-charge, single gene test for the diagnosis of achondroplasia, a genetic disorder caused by mutations in the FGFR3 gene. This program is available for patients in Europe and the Middle East who meet the eligibility criteria listed below in “Who Is Eligible for Testing.”

We offer easy online ordering for healthcare providers through our Nucleus portal. You can also request a free sample collection kit with return shipment to our Helsinki facility.

Why do genetic testing for achondroplasia?

  • Genetic testing is an effective way to identify the underlying cause of a patient’s achondroplasia diagnosis
  • In individuals who may be too young to have a diagnosis made with certainty, or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene to confirm diagnosis
  • Early access to genetic testing can enable a prompt and accurate diagnosis, which can lead to more targeted medical treatment
  • An accurate molecular diagnosis can assist with family planning

Download the forms

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 high-quality next-generation sequencing-based FGFR3 single gene test that includes accurate detection of any single nucleotide variants, and high-resolution copy number variant detection
  • Clinical reports created by a team of specialists who analyse results annually for thousands of patients with skeletal dysplasias, such as achondroplasia
  • 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 a clinical diagnosis of achondroplasia
  • 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.

How do I order the FGFR3 Single Gene Test for my patient?

The easiest way to order is:

  • Order a sample collection kit and download the Healthcare Professional’s Acceptance of Terms and Consent forms
  • Order the FGFR3 Single Gene Test by logging into Nucleus. Include the program contract code BMRN-FGFR3 in your order and attach the Consent and Healthcare Professional’s Acceptance of Terms forms
  • 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

Please note that the signed Acceptance of Terms and Consent forms, and contract code are required for all FGFR3 Genetic Testing Program orders. If you need any assistance, please contact us at support@blueprintgenetics.com.


1. Download forms and order a sample collection kit

  • Download the program’s Healthcare Professional’s Acceptance of Terms form and Consent form. The Acceptance of Terms form must be signed by the ordering healthcare provider and the Consent form by the patient or their parent/guardian.
  • Order the sample collection kit to your clinic or directly to your patient’s home. The kit includes pre-paid return shipment labels and further instructions for collecting and sending the patient sample
  • Label the sample collection tube with the patient’s name, date of birth, and sample collection date. Read more about sample requirements here

2. Log in to Nucleus to order the FGFR3 Single Gene Test

  • To place the order, log in to nucleus.blueprintgenetics.com. If you are a new user, create an online account free of charge
  • Select ‘New test’ and then select the FGFR3 Single Gene Test
  • Fill in the online requisition form, and add the contract code BMRN-FGFR3 in the ‘Billing info’ section of the form
  • Provide Blueprint Genetics the signed Acceptance of Terms and Consent forms. You can upload them into Nucleus, send via fax, or send with the patient sample
  • Need help in using Nucleus? Contact our Support team at support@blueprintgenetics.com to assist you in placing an order or download Nucleus guide for ordering sponsored testing

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 FGFR3 Genetic Testing Program Consent 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 the potential to be clinically significant. No identifiable patient information or raw data sequence data will be shared
    • Blueprint Genetics is authorized 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 achondroplasia. 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 public databases, such as ClinVar (https://www.ncbi.nlm.nih.gov/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 achondroplasia
  • Please see the full Program Privacy Notice here.

About Blueprint Genetics

Blueprint Genetics is a genetic testing company focused on human rare diseases. 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 FGFR3 Genetic Testing Program are managed in our European facility in Helsinki. More information can be found at: blueprintgenetics.com/about-us.


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 © 2022 Blueprint Genetics. All trademarks are property of their respective owners.


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Last modified: May 22, 2023