CENTER FOR INHERITED DISORDERS

OF ENERGY METABOLISM (CIDEM)

Rainbow Babies and Childrens Hospital, Room 4010

11100 Euclid Avenue

Cleveland, Ohio 44106

Phone: (216) 844-1286

FAX: (216) 844-8005 or 844-8900

ANALYSIS OF CARNITINE

The Center for Inherited Disorders of Energy Metabolism (CIDEM) offers an inexpensive screening procedure for free and total carnitine, along with a complete quantitative acylcarnitine profile and a quantitative long-chain acylcarnitine profile. Analyses are performed using pre-column chemical derivatization HPLC with UV detection for free and total carnitine and quantitative acylcarnitine profile procedures. Chemical derivatization with fluorescence detection is used for the quantitative long-chain acylcarnitine profile procedure. We suggest that the physician request assays in the following manner:

Carnitine Screening (Free and Total)

  • Recommended for detection of primary or secondary carnitine deficiency and monitoring patients being treated with carnitine. Candidates include patients with failure to thrive, cardiomyopathy, weakness, or possible metabolic disorders.
  • The minimum specimen: 150 µl/plasma specimen, 350 µl/urine specimen, 20 mg/tissue specimen.
  • The cost of this analysis is $60/specimen for urine and plasma and $90/specimen for tissue.
  • The turnaround time is 4-5 working days after we receive the sample.

Quantitative Acylcarnitine Profile (Urine)

  • For diagnosis and monitoring treatment of patients with strongly suspected or known metabolic disorders.
  • The acylcarnitine profile provides quantification of free carnitine, total carnitine, acetyl-, propionyl-, isobutyryl-, butyryl-, isovaleryl-, valeryl-, hexanoyl-, octanoyl- and decanoylcarnitine.
  • The minimum specimen: 350 µl.
  • The cost of this assay is $100/specimen.
  • The turnaround time is 4-5 working days after we receive the sample.

Quantitative Acylcarnitine Profile (Plasma or Tissue)

  • For diagnosis and monitoring treatment of patients with strongly suspected or known metabolic disorders.
  • The acylcarnitine profile provides quantification of free carnitine, total carnitine, acetyl-, propionyl-, isobutyryl-, butyryl-, isovaleryl-, valeryl-, hexanoyl-, octanoyl-, decanoyl, myristoyl-, palmitoyl-, palmitoeoyl-, stearoyl- and oleoylcarnitine.
  • The minimum specimen: 250 µl/plasma specimen, 20 mg/tissue specimen.
  • The cost of this assay is $150/specimen for plasma and $180/specimen for tissues.
  • The turnaround time is 4-5 working days after we receive the sample.

Preliminary results will be faxed as soon as they are available (if a fax number is provided). The final report will be sent within 7 working days after the analysis is completed. To process specimens in a timely manner, we require a properly completed CIDEM laboratory requisition.

A requisition form, instructions for sample collection and shipment, and fee schedule are enclosed. PLEASE USE THIS REQUISITION FORM FOR ALL SAMPLES SENT TO OUR LABORATORY.

July 1, 1997.