- Rhabdomyolysis results from the breakdown of skeletal muscle fibers with leakage of muscle contents into the circulation that can eventually lead to renal damage (1). Approximately 26,000 cases of rhabdomyolysis are reported annually in the United States (2). With prompt recognition and early intervention, a full recovery can be expected with early treatments (1, 2, 3). Although there are many causes for the disease, genetic mutations that affect lipid metabolism, carbohydrate metabolism, or purine metabolism are often implicated (2). A genetic disorder should be suspected in patients who have recurrent rhabdomyolysis after minimal to moderate exertion or after viral infections starting in childhood (2).
- Genes (24): ACAD9, ACADL, ACADM, ACADVL, AGL, C10orf2, CPT1B, CPT2, GAA, GYS1, HADHA, HADHB, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, RRM2B, SUCLA2, TK2, and TYMP
Test Code: 5011
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Myopathy-Rhabdopmyolysis Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81401×1, 81404×2, 81405×3, 81406×5, 81407×2, 81479×11
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Related Tests: None