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. To analyze samples for acylcarnitine profiles or urine organic acids contact

Results will be emailed to you within 7-10 days.