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Institute of Metabolic Disease at Baylor Research Institute
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C5 acylcarnitine isomers - Quantitative
This test differentiates isovalerylcarnitine (Isovaleric Acidemia) from 2-methylbutyrylcarnitine (2-methylbutyryl-CoA dehydrogenase deficiency) and pivaloylcarnitine.
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Department: Mass Spectrometry
Methodology: Ultrahigh Pressure Liquid Chromatography-Tandem Mass Spectrometry of butylated C5 acylcarnitine isomers
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.
Turnaround Time: 7 working days from sample receipt; samples will be batched and analyzed once a week
Cost: $350
CPT code: 82017
Related tests: Acylcarnitine Profile, Carnitine Levels, Urine Organic Acids, Supplemental Newborn Screening
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