No-charge genetic testing for individuals suspected of having a skeletal dysplasia.

Program eligibility

This program is available to patients in the US and Canada with signs or symptoms suggestive of, or consistent with, a diagnosis of skeletal dysplasia. To be eligible, patients must have at least one of the following:

  • skeletal abnormalities suggestive of skeletal dysplasia

  • short stature

  • disproportionate growth

  • dysmorphic facial features

  • other signs or symptoms suggestive of skeletal dysplasia

Genetic testing with Invitae

The Discover Dysplasias™ program uses the Invitae Skeletal Disorders Panel, which offers a broad analysis for genetic skeletal dysplasias and includes over 300 genes.

*Please note that this program does not accept prenatal samples.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the US Paper order form or Canadian paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Discover Dysplasias™ includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add re-requisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

Support every step of the way

Clinical consult services

Invitae’s team of board-certified and experienced genetic counselors trained in medical genetics is available to assist clinicians:

  • review patient cases that may benefit from genetic testing

  • differentiate between genetic tests to select the one that is most suitable for your patient

  • aid in interpreting results – provide result-specific background regarding variants, genes, and conditions

  • identify gene-specific information including relevant literature and studies, published management guidelines, and patient resources

For more information about Invitae’s Clinical Consult Services, please contact our Client Services team.

Genetic counseling

Individuals tested through the Discover Dysplasias™ program are eligible for no-charge, post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program. To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at (use partner code: SKEL).

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.

  • Sample options: blood, buccal, and saliva kits provided free of charge.

  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at

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 six commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visit


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  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. Updated September 28, 2018. Accessed March 3, 2021.

  5. Data on file. Novato, CA: BioMarin Pharmaceutical Inc.