 |
Institute of Metabolic Disease at Baylor Research Institute
 |
C4 Acylcarnitine Isomers
This test allows for fast differential diagnosis of Short Chain Acyl-CoA Dehydrogenase deficiency (butyrylcarnitine) versus Isobutyryl CoA Dehydrogenase Deficiency (Isobutyrylcarnitine).
Department: Mass Spectrometry
Methodology: Ultrahigh Pressure Liquid Chromatography-Tandem Mass Spectrometry of butylated isobutyryl and butyryllcarnitine
Sample:
• Dried Blood Spot card - 3 completely filled spots
• Plasma or Serum - 0.5 mL of heparinized plasma. Minimum volume - 0.2 mL
• Whole Blood - 3 mL of whole blood collected in a heparin tube. Minimum volume - 2 mL
Shipping Information:
• Dried Blood spot - Ship at room temperature.
• Plasma or Serum - Freeze 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:
This research test must be coordinated through the Mass Spectrometry Laboratory Director. Most research tests are performed on a batch basis. Contact the Mass Spectrometry Laboratory Director for more information.
Turnaround Time and Test Cost: Please contact the Mass Spectrometry Laboratory Director.
Related tests: Acylcarnitine Profile, Carnitine Levels, Urine Organic Acids, Supplemental Newborn Screening
|
|
Baylor Intranet | 
Baylor Portal