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ID:246 Acylcarnitines
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DescriptionAbnormal acylcarnitines accumulate in a variety of inborn errors of metabolism particularly in fat oxidation defects and certain organic acidurias.
IndicationIndications: unexplained hypoglycaemia, liver disease, metabolic acidosis, cardiomyopathy, muscle weakness. Diagnostic investigation of disorders of fatty acid oxidation. Contact Biochemical Genetics laboratory for further advice if required.
Additional InfoFree carnitine is measured as part of the profile. Please check expiry date on bloodspot cards prior to sending, Out of date cards will be rejected.
Concurrent Testsna
Dietary Requirementsna
InterpretationDescriptive report of acylcarnitine profile is provided. Quantitative values of free carnitine and/or individual acylcarnitines may also be reported as appropriate. Contact Biochemical Genetics laboratory for further advice if required.

DepartmentSpecialist Laboratory Medicine
SampleBlood
TubeGuthrie Card
Tube Picture
Collection ConditionsBloodspots on neonatal screening card. Please note a Pathology request form MUST be completed to accompany the bloodspot card.
Min. Vol2 spots
Freq.Weekly

Ref. Range (Male)See note
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range NotesDescriptive report based on acylcarnitine profile. Free carnitine and Individual acylcarnitines may be reported if clinically significant (ref ranges supplied on report as apprpriate). Contact Biochemical Genetics lab for advice if required.
Units- Descriptive Report
IP Acute TAT- Contact Laboratory
IP Routine TAT18 days
GP Acute TAT- Contact Laboratory
GP Routine TAT18 days
Turnround CommentNA

Originally edited by : Mick Henderson. Review due on 03/05/2020 10:49:28. Published By RB on 03/05/2019 10:49:28.