Muscle Disorders Panel
NGS panel for inherited muscle disorders; analyzes 122 genes (e.g., DMD, RYR1, TTN, LMNA) to detect pathogenic variants across dystrophy and myopathy spectra.
Accessed through the Roadmap2Rare Sponsored Testing Program•Sponsored by Sanofi•Performed by Revvity Omics, Inc.
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
If you or your child may have Limb Girdle Muscular Dystrophy (LGMD), getting a clear genetic diagnosis can be an important step toward understanding the condition and exploring your options. The Roadmap2Rare program, sponsored by Sanofi, provides genetic testing at no cost to you through a certified laboratory, Revvity Omics, Inc. Your doctor can order testing on your behalf, and the sponsor covers the full cost, so you never receive a bill for the test itself.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- This program is for diagnostic testing only — not carrier testing
- A doctor confirms the test is medically necessary and that consent was given
- At least one of these is true:
- For the Muscle Disorders Panel — a lab finding pointing to a muscle problem (EMG, CK, muscle biopsy, or MRI), plus at least one of: muscle weakness, unexplained breathing trouble, or another sign of muscle involvement (exercise intolerance, muscle breakdown, muscle pain)
- The doctor suspects Pompe disease
- Suspected infant-onset Pompe disease, or confirming a newborn screening result
- A family member has a known Pompe genetic change (familial variant)
What to expect
How the process works
- 1
Choose & order
Your clinician decides if this test fits your situation and submits the order.
- 2
Collect & ship
Provide the sample using the kit and instructions; the clinic or lab ships it to Revvity.
- 3
Get results
Results go to your clinician, who explains what they mean and next steps.
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 Revvity Omics, Inc., a CLIA-certified laboratory (CLIA 39D0673919). 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 Roadmap2Rare program for Limb Girdle Muscular Dystrophy?
Roadmap2Rare is a sponsored testing program that provides genetic testing for people who may have Limb Girdle Muscular Dystrophy (LGMD). The program is designed to help families get a clearer picture of what is causing muscle weakness and related symptoms. Testing is performed by Revvity Omics, Inc., and the program is sponsored by Sanofi. Your healthcare provider can request testing for you through the program.
Is the Roadmap2Rare genetic test for LGMD really free?
Yes, the Roadmap2Rare genetic test for Limb Girdle Muscular Dystrophy is provided at no cost to you. Sanofi, the program's sponsor, covers the full cost of testing. You will not receive a bill, a copay, or any charge for the test itself. Your doctor simply needs to order the test through the program.
How do I get tested for Limb Girdle Muscular Dystrophy through Roadmap2Rare?
To access Roadmap2Rare testing for LGMD, talk to your doctor or specialist about whether this program is right for you. Your healthcare provider is the one who orders the test on your behalf. The testing is performed by Revvity Omics, Inc., and your clinician will guide you through the process and discuss results with you.
Will my doctor decide which LGMD test is right for me through Roadmap2Rare?
Yes, your healthcare provider decides which test is most appropriate based on your symptoms and medical history. The Roadmap2Rare program is designed to support your doctor's clinical judgment, not replace it. Your clinician will consider all available options and choose the testing approach that makes the most sense for your situation.
Is genetic counseling available with Roadmap2Rare testing for Limb Girdle Muscular Dystrophy?
Your healthcare provider can discuss the meaning of your test results with you and may refer you to a genetic counselor for additional support. Genetic counselors are specially trained to help families understand genetic conditions like LGMD, talk through what results mean, and think about next steps. Ask your doctor about counseling resources that may be available to you.
Who qualifies for Roadmap2Rare Limb Girdle Muscular Dystrophy genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- You have signs that suggest a muscle problem, such as muscle weakness, unexplained breathing difficulty, or other symptoms of muscle involvement.
- Your clinician has evidence suggesting a muscle disorder (for example, based on exam or prior testing).
- Not for carrier testing.
Questions to ask your doctor about Muscle 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?