Sample Submission Steps

  1. 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.
  2. Submit serum, plasma, and/or urine kept chilled or frozen overnight for acylcarnitine and urine organic acid concentrations.
  3. Samples for acylcarnitine profiles or urine organic acids can be submitted directly to the Baylor Metabolic Institute.
  4. 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.