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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Discover Dysplasias™ program provides sponsored genetic testing and counseling for patients 16 years or younger with suspected skeletal dysplasia. Given the strong genetic basis of most dysplasias, this no-charge panel helps shorten the path to diagnosis by detecting many of the most frequent genetic contributors. Faster confirmation may support earlier, disease-specific evaluation and management planning.
When to consider this test
Patient selection
- Your patient may be eligible if they are 16 years of age or younger, reside in the US or Canada, and meet the following clinical criteria:
- Short stature (< –2 SDS) AND
- At least one of the following features:
- Disproportionate growth
- Bilateral skeletal abnormalities
- Facial dysmorphology
- Macrocephaly
- Congenital spine abnormality
- Joint laxity or hypermobility
- Neurobehavioral or neurodevelopmental disorder
Workflow
How to use this program
- 1
Review & Order
Confirm eligibility, discuss testing, obtain consent, and submit the order through Invitae’s online portal.
- 2
Collect & Return
Collect the patient’s specimen using an Invitae collection kit and return it using the included prepaid label (US and Canada).
- 3
View Results
Results are posted to the provider portal. Use Invitae’s clinical resources to support discussions with the family.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
What is the Discover Dysplasias™ program?
A sponsored program offering no-charge genetic testing and counseling for children 16 or younger with features concerning for skeletal dysplasia. It aims to help shorten the diagnostic timeline and support earlier, informed management.
Who is eligible?
Patients 16 or younger in the US or Canada with short stature and at least one additional sign or symptom suggestive of skeletal dysplasia (e.g., disproportionate growth, skeletal abnormalities, facial dysmorphology, macrocephaly, congenital spine abnormalities, or joint laxity/ hypermobility).
How do I order testing?
Submit the order through Invitae’s online portal, collect a specimen using an Invitae kit, and return it using the provided prepaid shipping label.
Is there a cost?
No. Testing and post-test counseling are provided at no charge to patients, providers, or payers.
Is genetic counseling available?
Yes. Post-test genetic counseling is included at no cost for patients tested through the program in the US or Canada. Patients can schedule via their portal or by calling 1-800-436-3037. Providers may also contact Invitae for support in reviewing results.
What kind of results should I expect?
Results are posted to the provider portal and will note pathogenic variants, likely pathogenic variants, or variants of uncertain significance in genes relevant to skeletal dysplasia.
Does participation require me to recommend or use any specific therapy?
No. The program does not obligate clinicians to recommend or prescribe any treatment or product.
See an issue with this program?