Acylcarnitines, blood spot
Clinical Background:
Analysis of acylcarnitines in dried blood spots is performed in the investigation of fatty acid oxidation disorders and some organic acid disorders. The clinical presentation of the patient and res...
Analysis of acylcarnitines in dried blood spots is performed in the investigation of fatty acid oxidation disorders and some organic acid disorders. 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.
Blood spot analysis may show poor sensitivity for the diagnosis of disorders of long-chain fatty acid metabolism. If carnitine palmitoyltransferase II (CPT2) or carnitine translocase (carnitine acylcarnitine carrier) deficiencies are suspected, analysis of acylcarnitines in plasma is recommended.
Post mortem blood spot acylcarnitines analysis is included in protocols for investigation of sudden unexpected death. Reference ranges derived from analysis of post-mortem acylcarnitines have been established.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood or blood spot
EDTA whole blood or blood spot
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Specimen Container Paediatric:
EDTA whole blood or blood spot
EDTA whole blood or blood spot
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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:
Blood spot acyl-carnitines are stable for weeks provided the specimen is kept dry.
EDTA whole blood should be kept in the fridge until blood spots are prepared.
Blood spot acyl-carnitines are stable for weeks provided the specimen is kept dry.
EDTA whole blood should be kept in the fridge until blood spots are prepared.
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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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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: