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 (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
When to consider this test
Patient selection
- Clinical evidence suggestive of muscle pathology (e.g., phenotype, labs/EMG/biopsy) AND at least one of:
- Muscle weakness, OR
- Unexplained respiratory insufficiency, OR
- Other symptoms indicating muscle involvement.
- Not intended for carrier screening; use separate workflows for carrier evaluation.
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
When should I order the MD panel?
When there is clinical evidence suggesting muscle pathology plus weakness, unexplained respiratory insufficiency, or other features of muscle involvement.
What does the panel cover?
A broad set of muscle genes across dystrophies, congenital/myofibrillar/myasthenic/myopathic spectrums (e.g., DMD, RYR1, TTN, LMNA, CAPN3, DYSF, FKRP, NEB, ACTA1, FLNC, SELENON).
How should I use results?
Integrate molecular findings with phenotype, CK/EMG/biopsy data, and cardiopulmonary assessments; consider targeted follow-up or specialty referral.
Are incidental/secondary findings reported?
Reports focus on variants relevant to the indication per lab policy; review the report scope and classification notes.
What about VUS?
Counsel patients that VUS may occur; reclassification can change interpretation over time.
Typical TAT?
Varies by assay; set expectations locally and align with program guidance.
Is this appropriate for carrier screening or predictive testing of asymptomatic relatives?
No; the program is not intended for carrier screening. Order separate carrier or targeted familial testing as indicated.
Any cardiomyopathy considerations?
Some genes (e.g., LMNA, TTN, FLNC) have cardiac overlap; ensure cardiac evaluation if clinically warranted.
See an issue with this program?