Discover Dysplasias Program

Sponsored, no-charge genetic testing for skeletal dysplasia
US and Canada

Discover Dysplasias

Help shorten the diagnostic journey with gene panel testing

The Discover Dysplasias™ program provides sponsored genetic testing and counseling for individuals 16 years of age or younger suspected of having a skeletal dysplasia. Most skeletal dysplasias have a genetic component - the Discover Dysplasias™ no-charge 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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Most skeletal dysplasias have a genetic component

  • 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

This program is available to patients 16 years of age or younger in the US and Canada with short stature and one or more of the following signs and symptoms suggestive of or consistent with a diagnosis of skeletal dysplasia:

Short stature (< -2 SDS)


Disproportionate growth


Bilateral skeletal abnormalities


Facial dysmorphology


Macrocephaly


Congenital spine abnormality


Joint laxity/hypermobility


Neurobehavioral/neurodevelopmental disorder


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

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US and Canada tested through the Discover Dysplasias program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by scheduling a session through their patient portal or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

Our sponsors love us

Discover Dysplasias is offered in partnership with the following sponsors:

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.

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 3, 2021.
5. Data on file. Novato, CA: BioMarin Pharmaceutical Inc.
6. Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet. 2019;179(12):2393-2419. doi:10.1002/ajmg.a.61366.
7. Lavery C, Hendriksz C. Mortality in patients with Morquio syndrome A. JIMD Rep. 2015;15:59-66. doi:10.1007/8904_2014_298.
8. Souza CFM, Siqueira AC, Antunes NS, et al. Perthes-like disease masquerading as non-classical MPS.J Inborn Errors Metab Screen. 2020;8(e20200003):1-11. doi:10.1590/2326-4594-JIEMS-2020-0003.

Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.