Discover Dysplasias Program

Sponsored, no-charge genetic testing for skeletal dysplasia
Australia

Discover Dysplasias Australia logo

Help shorten the diagnostic journey with gene panel testing

The Discover Dysplasias™ Australia sponsored genetic test can help facilitate diagnosis for some of the most common causes of skeletal dysplasias and, in some cases, put your patients on the path to disease-specific management sooner.1-5

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Program eligibility

This program is available to patients in Australia who meet the criteria below:

  • 92% of skeletal dysplasias have an identified molecular basis.6

  • Identifying the underlying genetic cause of a skeletal dysplasia is important, as each case might be managed differently.3

  • Delayed or incomplete diagnoses can result in less-optimal patient outcomes, including potential surgical risks.1,3

Test options

This program offers testing with the following panel. Learn more about the panel in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with patient about their results.

See how it works

Next steps and additional services

About BioMarin
BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. The Company's portfolio consists of seven commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visit www.biomarin.com.au.


About Ipsen
Ipsen is a global, mid-sized biopharmaceutical company focused on transformative medicines in Oncology, Rare Disease and Neuroscience. Ipsen sells medicines in over 100 countries. Alongside its external-innovation strategy, the Company’s research and development efforts are focused on its innovative and differentiated technological platforms located in the heart of leading biotechnological and life-science hubs. For more information, visit www.ipsen.com.

References

1. Nikkel SM. Skeletal dysplasias: what every bone health clinician needs to know. Curr Osteoporos Rep. 2017;15(5):419-424.
2. Jelin AC, O’Hare E, Blakemore K, Jelin EB, Valle D, Hoover-Fong J. Skeletal dysplasias: growing therapy for growing bones. Front Pharmacol. 2017;8(79):1-6.
3. Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42(2):301-319.
4. Zanelli SA. Skeletal dysplasia. In: Rohena LO, chief ed. Pediatrics: Genetics and Metabolic Disease. https://emedicine.medscape.com/article/943343-overview. Updated September 28, 2018. Accessed March 15, 2021.
5. Data on file. Novato, CA: BioMarin Pharmaceutical Inc.
6. Mortier GR et al. Am J Med Genet A. 2019;179(12):2393-2419.


Disclaimer: Discover Dysplasias™ Australia is a collaboration between Invitae Corporation, BioMarin Pharmaceutical Inc. and Ipsen Biopharmaceuticals, Inc. (the Sponsors). The Sponsors provide financial support for this program while tests and services are performed by Invitae. The Sponsors receive de-identified patient data from this program, but no patient identifiable information. The Sponsors receive contact information for healthcare professionals who use this program. Participants in this program have no obligation to recommend, purchase, prescribe, promote, administer, use, or support any product or service of the Sponsors.