Newcastle Laboratories

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.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    EDTA whole blood or blood spot

    EDTA whole blood or blood spot

  • Specimen Container Paediatric:

    EDTA whole blood or blood spot

    EDTA whole blood or blood spot

  • Minimum Volume Adult:

    0.5 mL

    0.5 mL

  • Minimum Volume Paediatric:

    0.5 mL

    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.

    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.

  • Quality Assurance:

    CDC, NEQAS, ERNDIM

    CDC, NEQAS, ERNDIM

  • 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.

  • Reference Ranges:

    Reported with interpretative comment.

    Reported with interpretative comment.

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Available during full access hours
Assayed twice weekly
Site of analysis: RVI

Turn Around:

1 week

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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