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Diagnostic Services

Genetics Lab

Acylcarnitine Profile

The plasma acylcarnitine profile provides a quantitative evaluation of individual acylcarnitine species. Abnormal profiles may be indicative of fatty acid oxidation disorders, some organic acidemias and some disorders of carnitine metabolism.

Test Name: Acylcarnitine Profile, Blood
Test Code:
ACYLCARN B
Test Description:
Quantitative free carnitine and C2 carnitine through C18 carnitine with accompanying reference ranges.
Synonyms:
Acylcarnitine, Blood
Indication:
For confirmation of newborn screening results, evaluating patients with episodes of lethargy or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management
Related Tests: Organic Acid Analysis, Urine  
For confirmation of newborn screening results, evaluating patients with episodes of lethargy or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Clinical Links:
Availability:
Mon-Fri
Turnaround Time:
1 week
Methodology:
Electrospray Tandem Mass Spectrometry
Reference Range:
Plasma acylcarnitine values are compared to age-matched normal values.
Requisition:
BiochemicalGenetics.pdf
Consent Form:
Sample Requirements: Type
Whole blood: 1 mL Green (Heparin), Red or Gold tube Contact Biochemical Genetics at (206) 987-2216 if the only available sample is blood spotted on filter paper.

Processing
Spin and freeze at least 200 uL of heparinized plasma or serum.

Shipping
Ship frozen on dry ice
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions