Acylcarnitines, plasma
Clinical Background:
Analysis of acylcarnitines is performed in the investigation of fatty acid oxidation disorders and some organic acid disorders. For the majority of cases, bloodspot acylcarnitines is the preferred ...
Analysis of acylcarnitines is performed in the investigation of fatty acid oxidation disorders and some organic acid disorders. For the majority of cases, bloodspot acylcarnitines is the preferred test.
Plasma acylcarnitines analysis is recommended when disorders of metabolism of long-chain species are suspected e.g. carnitine palmitoyltransferase II (CPT2) or carnitine translocase (carnitine acylcarnitine carrier) deficiencies. The test is not recommended for investigation of carnitine palmitoyltransferase I (CPT1) deficiency; blood spot acylcarnitine analysis is a more sensitive assay for this disorder.
The clinical presentation of the patient and results of other laboratory investigations are used to help with interpretation of results of acylcarnitine profiles. It is therefore very important to provide relevant clinical information with requests.
Note that the turnaround time for plasma acylcarnitines is longer than for blood spot acylcarnitines analysis.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA plasma
EDTA plasma
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Specimen Container Paediatric:
EDTA plasma
EDTA plasma
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Minimum Volume Adult:
0.5 mL
0.5 mL
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Minimum Volume Paediatric:
0.5 mL
0.5 mL
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Sample Stability:
Plasma acylcarnitines are stable at ambient temperature for 48 hours and at -20°C for 3 months.
Plasma acylcarnitines are stable at ambient temperature for 48 hours and at -20°C for 3 months.
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Transport Requirements:
NUTH users: send blood sample to the laboratory at ambient temperature
External hospitals: separate plasma and send at ambient temperature by first class post. If there is a delay in transport of ...
Read MoreNUTH users: send blood sample to the laboratory at ambient temperature
External hospitals: separate plasma and send at ambient temperature by first class post. If there is a delay in transport of the sample, store at -20°C before posting.
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Quality Assurance:
CDC, NEQAS, ERNDIM
CDC, NEQAS, ERNDIM
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Interpretation:
Each result is issued with an interpretation and advice as to follow up investigations if appropriate.
Each result is issued with an interpretation and advice as to follow up investigations if appropriate.
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Reference Ranges:
Reported with interpretative comment.
Reported with interpretative comment.
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Other Info:
Lithium-heparin plasma and serum samples are acceptable. State sample type on form.
Lithium-heparin plasma and serum samples are acceptable. State sample type on form.
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: