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
If your child has short stature along with other signs that suggest a skeletal dysplasia, the Discover Dysplasias program may help you get answers at no cost to you. Most skeletal dysplasias have an underlying genetic cause, and identifying the specific one can make a real difference in how your child's care is planned. This program, sponsored by BioMarin, covers the full cost of a comprehensive 358-gene panel plus genetic counseling, so your family can move from uncertainty toward a clearer path forward.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- The patient is 16 years old or younger
- In the United States or Canada
- The patient is much shorter than expected for their age (short stature)
- The patient has at least one of these signs or symptoms:
- Arms, legs, or body that grow out of proportion
- Bone or skeleton differences on both sides of the body
- Unusual facial features
- A larger-than-usual head size
- A spine difference present from birth
- Loose or unusually flexible joints
- A developmental, behavioral, or neurological condition
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 for skeletal dysplasia genetic testing?
The Discover Dysplasias program is a sponsored genetic testing program designed for children 16 years of age or younger who may have a skeletal dysplasia. It uses the Invitae Skeletal Disorders Panel, which looks at 358 genes associated with skeletal disorders. The program also includes access to genetic counseling to help your family understand the results and plan next steps.
Is the Discover Dysplasias skeletal dysplasia genetic test really free for my child?
Yes, the Discover Dysplasias program is completely free for your family. BioMarin, the program's sponsor, covers the entire cost of testing and genetic counseling. There is no charge, no copay, and no bill sent to you or your insurance. Your child's doctor simply needs to confirm that your child meets the program's criteria and place the order.
What kind of sample is needed for the Discover Dysplasias skeletal dysplasia test?
The Discover Dysplasias program accepts several sample types, including a blood draw, a saliva sample, or a buccal swab (a gentle cheek swab). Your child's doctor will choose the option that works best. This flexibility makes the process easier, especially for younger children who may be uncomfortable with a blood draw.
How long does it take to get results from the Discover Dysplasias skeletal dysplasia genetic test?
Results from the Discover Dysplasias program typically come back within 10 to 21 days after the lab receives your child's sample. Your child's ordering doctor will receive the results and review them with you. Genetic counseling is also available through the program to help you understand what the findings mean for your child's care.
Is genetic counseling included with the Discover Dysplasias skeletal dysplasia testing program?
Yes, genetic counseling is included as part of the Discover Dysplasias program at no cost to your family. A genetic counselor can help explain your child's test results in plain terms, answer your questions, and discuss what the findings might mean for treatment and follow-up. This support is built into the program so you are not left to interpret results on your own.
Why does genetic testing matter for a child with suspected skeletal dysplasia?
Most skeletal dysplasias are caused by changes in specific genes, and knowing which gene is involved can significantly shape your child's medical care. A confirmed genetic diagnosis may help your child's doctors choose the right evaluations, monitor for known complications, and consider disease-specific therapies. The Discover Dysplasias program tests 358 genes at once, which can shorten what is often a long and uncertain diagnostic journey.
Who qualifies for Discover Dysplasias Skeletal Dysplasias genetic testing?
Patients may qualify for Discover Dysplasias if they meet the program's eligibility criteria:
- 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
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
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