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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Roadmap2Rare offers no-cost genetic testing for patients with suspected Limb Girdle Muscular Dystrophy (LGMD), removing a common barrier to definitive molecular diagnosis in this heterogeneous group of disorders. Sponsored by Sanofi and performed by Revvity Omics, Inc., the program is available in the US. Test selection and all clinical decisions remain entirely at the ordering clinician's discretion, and ordering carries no prescribing or treatment obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- For diagnostic testing only — not appropriate for carrier testing
- Ordered by a licensed medical professional authorized to order genetic testing, who confirms informed consent and medical necessity
- Meets the program eligibility for at least one test option:
- Muscle Disorders Panel — laboratory evidence of muscle pathology plus at least one symptom:
- Laboratory evidence suggestive of a muscle pathology (e.g., EMG, CK, muscle biopsy, MRI)
- At least one of the following:
- Muscle weakness
- Unexplained respiratory insufficiency
- Other symptom(s) supporting muscle involvement (e.g., exercise intolerance, rhabdomyolysis, myalgia)
- Pompe enzyme assay with reflex to GAA sequencing — clinical suspicion of Pompe disease
- STAT expedited Pompe testing — suspected infantile-onset Pompe disease (IOPD) and newborn screening confirmation only
- Standalone acid alpha-glucosidase enzyme assay — confirmatory Pompe testing (if sequencing done elsewhere), or reflex from the Muscle Disorders Panel
- GAA known familial variant testing — family history of Pompe disease, familial variant known
Workflow
How to use this program
- 1
Select & order
Assess clinical fit (e.g., suspected Pompe/NBS flag) and submit the Roadmap2Rare requisition.
- 2
Collect & ship
Collect per kit instructions (e.g., DBS for enzyme; panel as directed) and ship to Revvity.
- 3
Review results
Review the report, counsel the family, and, if enzyme-deficient, note reflex sequencing status.
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 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
Frequently asked questions
Which patients are appropriate for Roadmap2Rare LGMD genetic testing?
Roadmap2Rare is intended for patients with a clinical suspicion of Limb Girdle Muscular Dystrophy. If a patient meets the program's eligibility criteria, the ordering clinician can request sponsored genetic testing through Revvity Omics, Inc. Test selection is at the clinician's discretion, ensuring the most appropriate evaluation for each individual patient.
What laboratory performs the Roadmap2Rare genetic testing for LGMD?
Genetic testing through Roadmap2Rare for Limb Girdle Muscular Dystrophy is performed by Revvity Omics, Inc. The program is sponsored by Sanofi, and testing is available to clinicians in the US. Revvity Omics handles specimen processing and result reporting.
Is there any cost or obligation when ordering through Roadmap2Rare for LGMD?
There is no cost to the patient, the clinician, or the practice for testing ordered through Roadmap2Rare. Sanofi sponsors the program and covers the full cost of testing. Ordering does not create any prescribing, treatment, or purchasing obligation. Clinical decision-making remains entirely independent of the testing program.
Does ordering Roadmap2Rare LGMD testing share patient information with Sanofi?
According to the Roadmap2Rare program, the identifying information of patients and clinicians is not shared with Sanofi. The testing is performed by Revvity Omics, Inc., and the program is structured to maintain the independence of clinical decision-making. Clinicians and patients should review the program's privacy policy for full details.
Is genetic counseling support available with Roadmap2Rare LGMD testing?
The Roadmap2Rare program is designed to support the diagnostic process for Limb Girdle Muscular Dystrophy. As with any genetic test, clinicians may wish to ensure patients have access to appropriate genetic counseling before and after testing. Referral to a genetic counselor remains at the clinician's discretion based on the patient's needs and clinical context.
Which patients are eligible for Roadmap2Rare Limb Girdle Muscular Dystrophy genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- Clinical evidence suggestive of muscle pathology (e.g., phenotype, labs/EMG/biopsy) AND at least one of:
- Muscle weakness
- Unexplained respiratory insufficiency
- Other symptoms indicating muscle involvement.
- Not intended for carrier screening; use separate workflows for carrier evaluation.
See an issue with this program?