Invitae Comprehensive Muscular Dystrophy Panel
Analyzes genes linked to inherited muscular dystrophies to support diagnosis, clarify prognosis, and guide care when symptoms or history suggest a neuromuscular disorder.
Accessed through the Detect Muscular Dystrophy Sponsored Testing Program•Sponsored by Sarepta Therapeutics, Muscular Dystrophy Association•Performed by Invitae | Labcorp
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Detect Muscular Dystrophy Program removes financial barriers to comprehensive genetic workup for patients presenting with suspected limb girdle muscular dystrophy or related neuromuscular conditions. Sponsored by Sarepta Therapeutics and performed by Invitae at Labcorp, the program covers the full cost of the Invitae Comprehensive Muscular Dystrophy Panel and includes post-test genetic counseling, supporting earlier diagnostic clarity and more informed management decisions without any prescribing or purchasing obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is in the U.S., suspected of having muscular dystrophy
- With at least one of the following:
- Progressive muscle weakness
- Elevated CK levels
- Presumptive positive DMD from Newborn Screening Program
- Cardiac or respiratory involvement
- Calf hypertrophy or pseudohypertrophy
- Muscle biopsy showing dystrophic changes and/or immunohistochemical evidence for a specific muscular dystrophy subtype
- Clinical diagnosis (if known)
- Family history of muscular dystrophy
Workflow
How to use this program
- 1
Order Test
Confirm eligibility, obtain consent, and place the order via Invitae’s portal or order form.
- 2
Collect Sample
Collect the specimen using an Invitae collection kit and return it using the included prepaid label.
- 3
Review Results
Access results online and use Invitae’s resources to guide your discussion and management plan with the patient.
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 does the Invitae Comprehensive Muscular Dystrophy Panel cover in the Detect Muscular Dystrophy Program?
The Invitae Comprehensive Muscular Dystrophy Panel analyzes 53 genes associated with muscular dystrophy, including limb girdle muscular dystrophy, Duchenne muscular dystrophy, and related neuromuscular disorders. Testing is performed via next-generation sequencing (NGS) by Invitae at Labcorp. The panel is designed to support differential diagnosis and identify actionable genetic findings that can inform treatment planning and family counseling.
Which patients are appropriate for the Detect Muscular Dystrophy sponsored LGMD testing program?
The Detect Muscular Dystrophy Program is intended for patients with suspected limb girdle muscular dystrophy, Duchenne muscular dystrophy, or related neuromuscular disorders. Ordering clinicians must confirm that patients meet the program's eligibility criteria. The program is available to patients in the United States.
What specimen types and turnaround time apply to the Detect Muscular Dystrophy Program?
The program accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Kits can be requested through Invitae's portal, and an order form is also available for download.
Is there any cost or prescribing obligation when ordering through the Detect Muscular Dystrophy Program?
There is no cost to the patient or the ordering provider. Sarepta Therapeutics sponsors the program and covers the full cost of testing. Ordering through the Detect Muscular Dystrophy Program carries no obligation to recommend, prescribe, purchase, or support any products or services from Invitae, Sarepta Therapeutics, or any other organization.
Does the Detect Muscular Dystrophy Program include genetic counseling for LGMD patients?
Yes, the Detect Muscular Dystrophy Program includes post-test genetic counseling at no additional cost. This service is available to help patients and their families interpret results and understand implications for management and family planning. Counseling can be accessed through Invitae's online scheduling option or by phone.
How is patient data handled in the Detect Muscular Dystrophy sponsored testing program?
Testing is performed by Invitae at Labcorp. Third-party sponsors may receive de-identified (pseudonymized) patient data from the program but do not receive patient-identifiable information at any time. Sponsors may receive contact information for ordering healthcare professionals. Full details are disclosed to patients as part of the ordering process.
Which patients are eligible for Detect Muscular Dystrophy Limb Girdle Muscular Dystrophy genetic testing?
Patients may qualify for Detect Muscular Dystrophy if they meet the program's eligibility criteria:
- Provider is evaluating a US-based patient with either a family history of muscular dystrophy* or clinical suspicion of muscular dystrophy supported by one or more of the following:
- Elevated CK levels
- Presumptive positive newborn screening result for Duchenne muscular dystrophy
- Progressive muscle weakness
- Muscle biopsy showing dystrophic changes or immunohistochemical evidence of a muscular dystrophy subtype
- Calf hypertrophy or pseudohypertrophy
- Cardiac or respiratory involvement
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