Sponsored genetic testing for individuals in Australia suspected of having a skeletal dysplasia.

Program eligibility

This program is available to patients in Australia under 18 years of age 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™ Australia 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 a paper-based order, contact a BioMarin representative at anz@bmrn.com or download the paper order form and include it in the specimen box. 

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

2. Collect a specimen

To order a specimen collection kit, contact a BioMarin representative at anz@bmrn.com. If an online order was placed and 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™ Australia 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 

Client Services

Available to answer your questions or help you through the testing process.

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

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 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 six 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 March 15, 2021.

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