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Institute of Metabolic Disease at Baylor Research Institute
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Acylcarnitine Profile – Quantitative
This test is valuable for detecting most of the fatty acid oxidation disorders including VLCAD, CPTII, LCHAD or trifunctional protein deficiency, MCAD, MADD and SCAD. The test can also detect many of the more common organic acid disorders such as isovaleric acidemia, propionic acidemia, methymalonic acidemia, thiolase deficiency and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Quantitative results for 31 individual acylcarnitines are reported with age related reference ranges (for dried blood spots) and interpretations.
Download Test Requisition
Department: Mass Spectrometry
Methodology: Tandem mass spectrometry of butylated acylcarnitines
Sample:
• Dried Blood Spot card (preferred) – 3 completely filled spots
• Plasma - 0.2 mL of heparinized plasma. Minimum volume – 0.1mL
• Whole Blood – 3 mL of whole blood collected in a heparin tube. Minimum volume – 2 mL
• Serum - 0.2mL of serum. Minimum volume – 0.1mL
Shipping Information:
• Dried Blood spot – ship at room temperature.
• Plasma or Serum– Freeze plasma and ship overnight on 3-4 lbs. of dry ice.
• Whole Blood – ship at room temperature.
Handling:
Ship all sample types overnight using a guaranteed courier.
Special Notes
The preferred sample type for this test is a Dried Blood Spot card because the long-chain acylcarnitines are absorbed on the surface of the red blood cells so that normal levels are much higher for dried blood spots than in plasma. Therefore, the elevations of these long-chain acylcarnitines in some milder forms of long-chain fatty acid oxidation disorders may not be as reliably detected in the plasma as they are in the dried blood spot card.
Prenatal Diagnosis
Prenatal diagnosis of Propionic Acidemia and Methylmalonic Acidemia is available by this method. Detection of additional disorders may also be available. Please contact the Mass Spectrometry Laboratory Director to discuss testing and obtain sample collection/handling information prior to sample submission.
Turnaround Time: 1-3 working days from sample receipt
Cost: $110.00
CPT code: 82017
Related tests:
Carnitine Levels, Urine Organic Acids, Supplemental Newborn Screening |
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