Sample Submission Steps
- Submit serum samples to a laboratory to measure serum muscle enzymes CK and AST; elevated values are consistent with disease; ideally, the CK and AST will be titrated to a specific end value.
- Submit serum, plasma, and/or urine kept chilled or frozen overnight for acylcarnitine and urine organic acid concentrations.
- Samples for acylcarnitine profiles or urine organic acids can be submitted directly to the Baylor Metabolic Institute.
- Send fresh (not formalin fixed) postural and respiratory muscles for lipid staining (Oil red O) to the Michigan State Neuromuscular Diagnostic Laboratory.
Results will be emailed to you within 7-10 days.