Abnormal acylcarnitines accumulate in a variety of inborn errors of metabolism, particularly in fat oxidation defects and certain organic acidurias. Presenting features may include unexplained hypoglycaemia (usually hypoketotic hypoglycaemia), liver disease, metabolic acidosis, cardiomyopathy and muscle weakness.
|Tube||Bloodspots on a neonatal screening card|
|Turn Around||18 days. Please contact the Biochemical Genetics laboratory for enquiries regarding urgent samples (0113 2064256).|
|Send to||Transport: Samples can be stored at room temperature during transport and prior to analysis.
Specialist Laboratory Medicine
St James hospital
|Collection Con||Minimum volume: 2 blood spots
Instructions for lab:
If storage required store dried blood spot card at room temperature. Whole blood samples (EDTA or heparin) can be spotted on to a dried blood spot card in the Biochemical Genetics lab. Samples are stable for 4 days prior to spotting.
Please discuss with Biochemical Genetics lab prior to rejecting any samples.
|Sample REQ||Dried blood spots. A Pathology request form MUST be completed to accompany the bloodspot card. Please check expiry date on bloodspot cards prior to sending, out of date cards will be rejected.|
|Ref. Range Notes||Descriptive report of acylcarnitine profile is provided. Quantitative values of free carnitine and/or individual acylcarnitines may also be reported if clinically significant with reference ranges supplied on the report as appropriate. Contact Biochemical Genetics laboratory for further advice if required.
|Telepath||Acylcarnitines (comment): ACRN1J, Quantitative acylcarnitines (1): ACQA1J, Quantitative acylcarnitines (2): ACQB1J|
|ICE Codes||Acylcarnitines: ACRN1J|