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HelpTest Code LAB429 Acylcarnitine
Clinical System Name
Acylcarnitine Profile, Blood
Synonyms
Acylcarn
Acylcarnitine Blood
Sample Requirements
Specimen: Whole Blood
Container(s): Dark Green/Sodium Heparin, Lt. Green/ Lithium Heparin, Gold SST, Red
Preferred Vol: 1.0 mL
Minimum Vol: 0.5 mL
Note: EDTA plasma or Serum is also acceptable. Test can be done on dried blood spots (3 full spots on a newborn screening card), however, plasma is the preferred sample type, especially for follow up testing of an abnormal newborn screen.
Processing Instructions
Reject due to: Gross Hemolysis
Spin: Y
Aliquot: Y
Temp: -20 C
Storage location: CPA -20 Freezer, Biochemical Genetics Box
Off-site collection: Freeze and ship heparinized plasma or serum (preferred sample type), EDTA plasma acceptable. Blood spotted on newborn screening filter card should be shipped at room temperature.
Stability
| Temperature | Time |
|---|---|
| Room temp | 5 days |
| Refrigerated | 5 days |
| Frozen (-20C) (serum/plasma) | 1 month |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | M, Th | 3-7 days |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82017
Methodology
Method: Tandem mass spectrometry
Analytical Volume: 0.2 mL
Limitations:
Description
Measurement of acylcarnitines by ESI-MS/MS using stable isotope internal standards. Free carnitine is also reported. An order for "Free/Total Carnitine" in addition to "Acylcarnitine" would be considered a duplicate.
Free carnitine is included within the report; simultaneous order for free/total carnitine will be considered a duplicate and cancelled.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy, and family history)
Clinical Utility
Analysis of acylcarnitines is useful in diagnosis of defects in fatty acid beta-oxidation and various disorders of organic acid metabolism. Acylcarnitine analysis is often used in conjunction with urine organic acid analysis in the diagnosis of these disorders and in followup of presumptive positive newborn screening results.