Acylcarnitine Profile

Label Mnemonic:	ACYLC
Epic code:	LAB2537
Downtime form:	A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery

Commercial Mailout Laboratory
6240-8 RCP
356-8593

Specimen(s):

Plasma

Specimen Instructions:

Draw specimen just prior to a scheduled meal or feeding.
Additional Information:
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.

Collection Medium:

Green top tube 4 mL (Na Heparin)

Minimum:

Preferred Minimum:  4 mL sodium heparin whole blood
                    to yield 0.5 mL plasma

Absolute Minimum:  1 mL sodium heparin whole blood
                   to yield 0.1 mL plasma

Turn Around Time:

4 days upon receipt at reference laboratory

Reference Range:

Acetylcarnitine, C2
< or = 7 days    2.14-15.89 nmol/mL
8 days-7 years   2.00-27.57 nmol/mL
> or = 8 years   2.00-17.83 nmol/mL

Acrylylcarnitine, C3:1
< or = 7 days    < 0.04 nmol/mL
8 days-7 years   < 0.05 nmol/mL
> or = 8 years   < 0.07 nmol/mL

Propionylcarnitine, C3
< or = 7 days    < 0.55 nmol/mL
8 days-7 years   < 1.78 nmol/mL
> or = 8 years   < 0.88 nmol/mL

Formiminoglutamate, FIGLU
< or = 7 days    < 0.43 nmol/mL
8 days-7 years   < 0.08 nmol/mL
> or = 8 years   < 0.14 nmol/mL

Iso-/Butyrylcarnitine, C4
< or = 7 days    < 0.46 nmol/mL
8 days-7 years   < 1.06 nmol/mL
> or = 8 years   < 0.83 nmol/mL

Tiglylcarnitine, C5:1
< or = 7 days    < 0.05 nmol/mL
8 days-7 years   < 0.09 nmol/mL
> or = 8 years   < 0.11 nmol/mL

Isovaleryl-/2-Methylbutyrylcarnitine C5
< or = 7 days    < 0.38 nmol/mL
8 days-7 years   < 0.63 nmol/mL
> or = 8 years   < 0.51 nmol/mL

3-OH-iso-/butyrylcarnitine, C4-OH
< or = 7 days    < 0.13 nmol/mL
8 days-7 years   < 0.51 nmol/mL
> or = 8 years   < 0.18 nmol/mL

Hexenoylcarnitine, C6:1
< or = 7 days    < 0.12 nmol/mL
8 days-7 years   < 0.10 nmol/mL
> or = 8 years   < 0.15 nmol/mL

Hexanoylcarnitine, C6
< or = 7 days    < 0.14 nmol/mL
8 days-7 years   < 0.23 nmol/mL
> or = 8 years   < 0.17 nmol/mL

3-OH-isovalerylcarnitine, C5-OH
< or = 7 days    < 0.08 nmol/mL
8 days-7 years   < 0.12 nmol/mL
> or = 8 years   < 0.10 nmol/mL

Benzoylcarnitine
< or = 7 days    < 0.13 nmol/mL
8 days-7 years   < 0.07 nmol/mL
> or = 8 years   < 0.10 nmol/mL

Heptanoylcarnitine, C7
< or = 7 days    < 0.05 nmol/mL
8 days-7 years   < 0.05 nmol/mL
> or = 8 years   < 0.06 nmol/mL

3-OH-hexanoylcarnitine, C6-OH
< or = 7 days    < 0.08 nmol/mL
8 days-7 years   < 0.19 nmol/mL
> or = 8 years   < 0.09 nmol/mL

Phenylacetylcarnitine
< or = 7 days    < 0.15 nmol/mL
8 days-7 years   < 0.22 nmol/mL
> or = 8 years   < 0.29 nmol/mL

Salicylcarnitine
< or = 7 days    < 0.08 nmol/mL
8 days-7 years   < 0.09 nmol/mL
> or = 8 years   < 0.09 nmol/mL

Octenoylcarnitine, C8:1
< or = 7 days    < 0.48 nmol/mL
8 days-7 years   < 0.91 nmol/mL
> or = 8 years   < 0.88 nmol/mL

Octanoylcarnitine, C8
< or = 7 days    < 0.19 nmol/mL
8 days-7 years   < 0.45 nmol/mL
> or = 8 years   < 0.78 nmol/mL

Malonylcarnitine, C3-DC
< or = 7 days    < 0.09 nmol/mL
8 days-7 years   < 0.14 nmol/mL
> or = 8 years   < 0.26 nmol/mL

Decadienoylcarnitine, C10:2
< or = 7 days    < 0.11 nmol/mL
8 days-7 years   < 0.12 nmol/mL
> or = 8 years   < 0.26 nmol/mL

Decenoylcarnitine, C10:1
< or = 7 days    < 0.25 nmol/mL
8 days-7 years   < 0.46 nmol/mL
> or = 8 years   < 0.47 nmol/mL

Decanoylcarnitine, C10
< or = 7 days    < 0.27 nmol/mL
8 days-7 years   < 0.91 nmol/mL
> or = 8 years   < 0.88 nmol/mL

Methylmalonyl-/succinylcarn, C4-DC
< or = 7 days    < 0.05 nmol/mL
8 days-7 years   < 0.05 nmol/mL
> or = 8 years   < 0.05 nmol/mL

3-OH-decenoylcarnitine, C10:1-OH
< or = 7 days    < 0.12 nmol/mL
8 days-7 years   < 0.12 nmol/mL
> or = 8 years   < 0.13 nmol/mL

Glutarylcarnitine, C5-DC
< or = 7 days    < 0.06 nmol/mL
8 days-7 years   < 0.10 nmol/mL
> or = 8 years   < 0.11 nmol/mL

Dodecenoylcarnitine, C12:1
< or = 7 days    < 0.19 nmol/mL
8 days-7 years   < 0.37 nmol/mL
> or = 8 years   < 0.35 nmol/mL

Dodecanoylcarnitine, C12
< or = 7 days    < 0.18 nmol/mL
8 days-7 years   < 0.35 nmol/mL
> or = 8 years   < 0.26 nmol/mL

3-Methylglutarylcarnitine, C6-DC
< or = 7 days    < 0.28 nmol/mL
8 days-7 years   < 0.21 nmol/mL
> or = 8 years   < 0.43 nmol/mL

3-OH-dodecenoylcarnitine, C12:1-OH
< or = 7 days    < 0.11 nmol/mL
8 days-7 years   < 0.10 nmol/mL
> or = 8 years   < 0.13 nmol/mL

3-OH-Dodecanoylcarnitine, C12-OH
< or = 7 days    < 0.06 nmol/mL
8 days-7 years   < 0.09 nmol/mL
> or = 8 years   < 0.08 nmol/mL

Tetradecadienoylcarnitine, C14:2
< or = 7 days    < 0.09 nmol/mL
8 days-7 years   < 0.13 nmol/mL
> or = 8 years   < 0.18 nmol/mL

Tetradecenoylcarnitine, C14:1
< or = 7 days    < 0.16 nmol/mL
8 days-7 years   < 0.35 nmol/mL
> or = 8 years   < 0.24 nmol/mL

Tetradecanoylcarnitine, C14
< or = 7 days    < 0.11 nmol/mL
8 days-7 years   < 0.15 nmol/mL
> or = 8 years   < 0.12 nmol/mL

Octanedioylcarnitine, C8-DC
< or = 7 days    < 0.25 nmol/mL
8 days-7 years   < 0.19 nmol/mL
> or = 8 years   < 0.19 nmol/mL

3-OH-Tetradecenoylcarnitine C14:1OH
< or = 7 days    < 0.06 nmol/mL
8 days-7 years   < 0.18 nmol/mL
> or = 8 years   < 0.13 nmol/mL

3-OH-Tetradecanolycarnitine, C14-OH
< or = 7 days    < 0.04 nmol/mL
8 days-7 years   < 0.05 nmol/mL
> or = 8 years   < 0.08 nmol/mL

Hexadecenoylcarnitine, C16:1
< or = 7 days    < 0.15 nmol/mL
8 days-7 years   < 0.21 nmol/mL
> or = 8 years   < 0.10 nmol/mL

Hexadecanoylcarnitine, C16
< or = 7 days    < 0.36 nmol/mL
8 days-7 years   < 0.52 nmol/mL
> or = 8 years   < 0.23 nmol/mL

3-OH-hexadecenoylcarnitine, C16:1-OH
< or = 7 days    < 0.78 nmol/mL
8 days-7 years   < 0.36 nmol/mL
> or = 8 years   < 0.06 nmol/mL

3-OH-hexadecanoylcarnitine, C16-OH
< or = 7 days    < 0.10 nmol/mL
8 days-7 years   < 0.07 nmol/mL
> or = 8 years   < 0.06 nmol/mL

Octadecadienoylcarnitine, C18:2
< or = 7 days    < 0.12 nmol/mL
8 days-7 years   < 0.31 nmol/mL
> or = 8 years   < 0.24 nmol/mL

Octadecenoylcarnitine, C18:1
< or = 7 days    < 0.25 nmol/mL
8 days-7 years   < 0.45 nmol/mL
> or = 8 years   < 0.39 nmol/mL

Octadecanoylcarnitine, C18
< or = 7 days    < 0.10 nmol/mL
8 days-7 years   < 0.12 nmol/mL
> or = 8 years   < 0.14 nmol/mL

Dodecanedioylcarnitine, C12-DC
< or = 7 days    < 0.10 nmol/mL
8 days-7 years   < 0.04 nmol/mL
> or = 8 years   < 0.04 nmol/mL

3-OH-octadecadienoylcarn, C18:2-OH
< or = 7 days    < 0.04 nmol/mL
8 days-7 years   < 0.06 nmol/mL
> or = 8 years   < 0.06 nmol/mL

3-OH-octadecenoylcarnitine C18:1-OH
< or = 7 days    < 0.03 nmol/mL
8 days-7 years   < 0.04 nmol/mL
> or = 8 years   < 0.06 nmol/mL

3-OH-octadecanoylcarnitine, C18-OH
< or = 7 days    < 0.03 nmol/mL
8 days-7 years   < 0.05 nmol/mL
> or = 8 years   < 0.03 nmol/mL

Comments:

Patient's age is required on the request form for processing.

In a few instances, false-negative results occur in the analysis of acylcarnitine profiles. For some disorders, such as medium-chain acyl- CoA dehydrogenase (MCAD) deficiency, the calculation of ratios between different acylcarnitine species provides a discriminate factor to overcome such problems. Where applicable, the calculation of such ratios will be incorporated in the routine acylcarnitine analysis. Informative profiles may also not be detected in some disorders where the accumulation of diagnostic acylcarnitines is a reflection of the residual activity of the defective enzyme, the dietary load of precursors, and the anabolic/catabolic and treatment status of a patient. Patients with carnitine deficiency may not exhibit abnormally high acylcarnitine concentrations. If the results are indicative for carnitine deficiency, the interpretation will include a remark that this limits the diagnostic value of the test and repeat analysis may be considered following carnitine supplementation. Follow-up testing such as in vitro enzyme assays or molecular genetic testing may be recommended following abnormal acylcarnitine results. It is not advisable to intentionally stress the patient's metabolism (eg, fasting test) prior to specimen collection for acylcarnitine analysis.

Methodology:

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

CPT Code:

82017