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

Program eligibility

This program is available to patients in the US 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 Expanded Dysplasia Panel, which offers a broad analysis for genetic skeletal dysplasia and includes 109 genes.

Ordering made easy

Clinicians can place an order by following the steps below (please note that the Discover Dysplasias program only accepts paper orders).

To collect a specimen:

  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information, please see specimen and shipping requirements
  4. Include the paper order form with your sample

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

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 www.gene-matters.com (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 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 invitae.com.

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.

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 October 24, 2019.

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