|
Useful For
|
It is the test of choice for fatty acid oxidation defects and should be performed on all patients with otherwise unexplained hypoglycemia, episodic sickness (vomiting, collapse), cardiomyopathy, cardiac arrhythmias, myopathy, and rhabdomyolysis. It is also a useful test for a large number of clinically important organic acidemias. An acylcarnitine profile should be requested if investigating suspected metabolic disease.
|
|
Method name and description
|
Flow injection analysis tandem mass spectrometry (FIA-MS/MS).
|
|
Reporting name
|
Acylcarnitines Quantitative Plasma
|
|
Clinical information
|
Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate.
Reference: Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
|
|
|
Specimen type / Specimen volume / Specimen container
|
Specimen type: Plasma
Container/Tube: EDTA, place immediately on ice after collection.
Specimen Volume: 1 ml (0.5 ml Minimum volume).
|
|
Collection instructions / Special Precautions / Timing of collection
|
Patient preparation: Collect specimen just prior to a scheduled meal or feeding.
Send specimen immediately to HMC lab Central Processing (CP) areas 24/7.
|
|
Relevant clinical information to be provided
|
Patient age is required. Include family history, symptoms (if any), diet and medications
|
|
Storage and transport instructions
|
Store Frozen
Transport Temperature :Cold.
Lab Note: Separate plasma from cells immediately or within 2 hours of collection. Transfer 0.5 ml plasma (Min: 0.2 ml) to clean plastic tube labeled with CIS lab accession barcode number of the primary collection container (minimum requirement patient name and HC number). Send to Metabolic lab Sunday -Thursday 7:00 AM - 02:00 PM.
|
|
Specimen Rejection Criteria
|
Inadequate patient identification (HC& Name).
Room temperature specimens. Call Metabolic lab before rejection or cancelling the Order in CIS.
Clotted blood sample.
Sample collected in Wrong tube.
|
|
|
Biological reference intervals and clinical decision values
|
|
Assay Display
|
≤7 days μmol/L
|
8 days-7 years μmol/L
|
≥8 years μmol/L
|
|
Acetylcarnitine, C2
|
2.14 - 15.89
|
2.00 - 27.57
|
2.00 - 17.83
|
|
Propionylcarnitine, C3
|
≤0.55
|
≤1.78
|
≤0.88
|
|
Iso-/Butyrylcarnitine, C4
|
≤0.46
|
≤1.06
|
≤0.83
|
|
Tiglylcarnitine, C5:1
|
≤0.05
|
≤0.09
|
≤0.11
|
|
Isovaleryl-/2-Methylbutyrylcarn C5
|
≤0.38
|
≤0.63
|
≤0.51
|
|
3-OH-iso-/butyrylcarnitine, C4-OH
|
≤0.13
|
≤0.51
|
≤0.18
|
|
Hexanoylcarnitine, C6
|
≤0.14
|
≤0.23
|
≤0.17
|
|
3-OH-isovalerylcarnitine, C5-OH
|
≤0.08
|
≤0.12
|
≤0.10
|
|
Octanoylcarnitine, C8
|
≤0.19
|
≤0.45
|
≤0.78
|
|
Malonylcarnitine, C3-DC
|
≤0.09
|
≤0.14
|
≤0.26
|
|
Decadienoylcarnitine, C10:2
|
≤0.11
|
≤0.12
|
≤0.26
|
|
Decenoylcarnitine, C10:1
|
≤0.25
|
≤0.46
|
≤0.47
|
|
Decanoylcarnitine, C10
|
≤0.27
|
≤0.91
|
≤0.88
|
|
Methylmalonyl-/succinylcarn, C4-DC
|
≤0.05
|
≤0.05
|
≤0.05
|
|
Glutarylcarnitine, C5-DC
|
≤0.06
|
≤0.10
|
≤0.11
|
|
Dodecenoylcarnitine, C12:1
|
≤0.19
|
≤0.37
|
≤0.35
|
|
Dodecanoylcarnitine, C12
|
≤0.18
|
≤0.35
|
≤0.26
|
|
3-Methylglutarylcarnitine, C6-DC
|
≤0.28
|
≤0.21
|
≤0.43
|
|
Tetradecadienoylcarnitine, C14:2
|
≤0.09
|
≤0.13
|
≤0.18
|
|
Tetradecenoylcarnitine, C14:1
|
≤0.16
|
≤0.35
|
≤0.24
|
|
Tetradecanoylcarnitine, C14
|
≤0.11
|
≤0.15
|
≤0.12
|
|
3-OH-tetradecanoylcarnitine, C14-OH
|
≤0.04
|
≤0.05
|
≤0.08
|
|
Hexadecenoylcarnitine, C16:1
|
≤0.15
|
≤0.21
|
≤0.10
|
|
Hexadecanoylcarnitine, C16
|
≤0.36
|
≤0.52
|
≤0.23
|
|
3-OH-hexadecenoylcarnitine,C16:1-OH
|
≤0.78
|
≤0.36
|
≤0.06
|
|
3-OH-hexadecanoylcarnitine, C16-OH
|
≤0.10
|
≤0.07
|
≤0.06
|
|
Octadecadienoylcarnitine, C18:2
|
≤0.12
|
≤0.31
|
≤0.24
|
|
Octadecenoylcarnitine, C18:1
|
≤0.25
|
≤0.45
|
≤0.39
|
|
Octadecanoylcarnitine, C18
|
≤0.10
|
≤0.12
|
≤0.14
|
|
3-OH-octadecadienoylcarn, C18:2-OH
|
≤0.04
|
≤0.06
|
≤0.06
|
|
3-OH-octadecenoylcarnitine C18:1-OH
|
≤0.03
|
≤0.04
|
≤0.06
|
|
3-OH-octadecanoylcarnitine, C18-OH
|
≤0.03
|
≤0.05
|
≤0.03
|
|
|
Turnaround time / Days and times test performed / Specimen retention time
|
Turnaround time: 7 Working days
Days: Sunday to Thursday
Specimen retention time: One Month
|
|
|
