Clinicians in the US and Canada can place an order by following the steps below (please note that the Discover Dysplasias program only accepts paper orders).
To collect a specimen:
To receive results:
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.
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.
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.
Nikkel SM. Skeletal dysplasias: what every bone health clinician needs to know. Curr Osteoporos Rep. 2017;15(5):419-424.
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.
Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42(2):301-319.
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 April 22, 2020.
Data on file. Novato, CA: BioMarin Pharmaceutical Inc.