Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
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 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.
Specimen container paediatric:
EDTA whole blood or blood spot
Specimen container adult:
EDTA whole blood or blood spot
Minimum volume paediatric:
0.5 mL
Minimum volume adult:
0.5 mL
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.
Availability:
Available during full access hours
Assayed twice weekly
Site of analysis: RVI
Quality assurance:
CDC, NEQAS, ERNDIM
Interpretation:
Each result is issued with an interpretation and advice as to follow up investigations if appropriate.
Reference ranges:
Reported with interpretative comment.