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 no-cost access to the Invitae Skeletal Disorders Panel, a 358-gene NGS panel, for pediatric patients with clinical suspicion of skeletal dysplasia. Sponsored by BioMarin and performed by Invitae at Labcorp, the program includes genetic counseling and is designed to compress the diagnostic timeline for a class of disorders where early molecular confirmation can directly inform disease-specific management. Ordering clinicians and patients have no obligation to recommend, purchase, or prescribe any products or services.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is 16 years of age and younger
- In the US or Canada
- Short stature (< -1.5 SDS)
- At least one of the following:
- Disproportionate growth
- Bilateral skeletal abnormalities
- Facial dysmorphology
- Macrocephaly
- Congenital spine abnormality
- Joint laxity/hypermobility
- Neurobehavioral/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
Which patients are appropriate for the Discover Dysplasias skeletal dysplasia genetic testing program?
The Discover Dysplasias program is available to patients 16 years of age or younger in the United States who present with clinical features suggestive of skeletal dysplasia. Referring clinicians should confirm that the patient meets the program's specific eligibility criteria before ordering. The program is designed to facilitate earlier molecular diagnosis in a patient population where the diagnostic odyssey is often prolonged.
What does the Invitae Skeletal Disorders Panel in the Discover Dysplasias program cover?
The Invitae Skeletal Disorders Panel offered through Discover Dysplasias interrogates 358 genes associated with skeletal disorders using next-generation sequencing. This breadth of coverage addresses the extensive genetic heterogeneity of skeletal dysplasias, enabling evaluation of many of the most clinically relevant genetic contributors in a single test. Results are returned within 10 to 21 days.
What specimen types and logistics apply to the Discover Dysplasias skeletal dysplasia panel?
The Discover Dysplasias program accepts whole blood, saliva, buccal swab, or extracted gDNA. Kits can be requested directly through the program. Testing is performed by Invitae at Labcorp, and turnaround time is 10 to 21 days from specimen receipt.
Is genetic counseling available through the Discover Dysplasias program?
Yes, the Discover Dysplasias program includes genetic counseling services at no cost. This can support both pre-test and post-test discussions with families, particularly in cases where results reveal variants requiring nuanced interpretation. Counseling is available to assist with result communication and management planning.
What is the cost to the patient or practice for the Discover Dysplasias skeletal dysplasia testing?
There is no cost to the patient, family, or ordering practice. BioMarin sponsors the Discover Dysplasias program, covering the full cost of the 358-gene panel and genetic counseling. No billing is generated to the patient or their insurance. Participation carries no obligation to recommend, prescribe, or use any products or services from BioMarin, Invitae, or any other entity.
Does ordering the Discover Dysplasias skeletal dysplasia test create any prescribing obligation?
No. Clinicians and patients who participate in the Discover Dysplasias program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any products or services from Invitae, BioMarin, or any other party. The program exists solely to support molecular diagnosis in pediatric skeletal dysplasia.
Which patients are eligible for Discover Dysplasias Skeletal Dysplasias genetic testing?
Patients may qualify for Discover Dysplasias if they meet the program's eligibility criteria:
- 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
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