Invitae Skeletal Disorders Panel
A genetic panel evaluating multiple genes linked to skeletal disorders involving abnormal bone or cartilage development. Helpful when clinical features are unclear.
Accessed through the Discover Dysplasias Sponsored Testing Program•Sponsored by BioMarin•Performed by Invitae | Labcorp
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
The Discover Dysplasias™ program offers no-charge genetic testing and counseling for children 16 and under who may have a skeletal dysplasia. Because most skeletal dysplasias have an underlying genetic cause, this program helps families get clarity sooner by identifying many of the more common genetic drivers. Early diagnosis can guide more appropriate care and support next steps.
Who this may help
Could this be right for you or your family?
- You may qualify if you are 16 years old or younger, live in the US or Canada, and have short stature (< –2 SDS) along with one or more of the following:
- Disproportionate growth
- Bilateral skeletal abnormalities
- Facial differences suggestive of dysplasia
- Macrocephaly
- Congenital spine abnormalities
- Joint laxity or hypermobility
- Neurobehavioral or neurodevelopmental concerns
What to expect
How the process works
- 1
Start Order
Talk with your provider about testing and give consent. Your provider will place the order through Invitae’s online portal.
- 2
Provide a Sample
Give a specimen using an Invitae saliva, buccal, or blood collection kit. The kit includes a prepaid label for no-charge return shipping within the US and Canada.
- 3
Get Your Results
Access your results online. Your provider will review them with you and use Invitae’s resources to guide the conversation.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Common questions about this program
What is the Discover Dysplasias™ program?
It’s a sponsored, no-charge genetic testing program for children 16 or younger who may have a skeletal dysplasia. The test can help clarify the cause of short stature or other skeletal findings.
Who is eligible?
Children in the US or Canada, age 16 or younger, with short stature and at least one clinical feature suggestive of a skeletal dysplasia (such as disproportionate growth, skeletal abnormalities, or macrocephaly).
How does the testing process work?
Your provider orders the test, collects a specimen using an Invitae kit, and sends it to the lab. Results are typically available online once testing is complete.
Is there a cost for the test?
No. There is no charge to patients, providers, or payers for testing through this program.
Is genetic counseling included?
Yes. Individuals in the US and Canada who are tested through this program can receive post-test genetic counseling at no charge. Counseling is provided by Invitae. Patients can schedule through their portal or call Invitae Client Services at 1-800-436-3037 to request an appointment.
Will this testing guide treatment or management?
Results may help clarify the underlying genetic cause and support earlier, condition-specific management. Your provider will use the results to help guide next steps.
Does participating require using or prescribing any specific treatment?
No. There is no obligation to recommend, purchase, prescribe, or support any product or therapy.
Questions to ask your doctor about Invitae Skeletal Disorders Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?