Acylcarnitine Profile, Quantitative, Plasma

Clinical Use

Use

Used in the diagnosis and monitoring of inherited disorders of fatty acid oxidation and organic acidurias. May be used as a follow-up test to some abnormal newborn screen results.

Special Instructions

Not provided.

Limitations

False-negative results can occur with acylcarnitine profiling, especially when the patient is carnitine deficient, is affected with a milder variant of a disorder, or when a clinical condition or dietary supplementation causes secondary changes to the profile. Results of acylcarnitine profiling should be interpreted in the context of clinical presentation as well as other laboratory tests, which may include urine organic acid analysis and molecular testing.

Test Details

Methodology

Mass Spectrometry

Biomarkers

30 targets

C10C10:1C10:2C12C14C14-HydroxyC14:1C14:2+22 more

LOINC Codes

Order Codes

43433-2 - Acylcarnitine Pnl SerPl

Result Codes

30191-1 - Acetylcarn SerPl-sCnc
30551-6 - Propionylcarn SerPl-sCnc
55940-1 - Malonylcarn SerPl-sCnc
51413-3 - Butyryl+Isobutyrylcarn SerPl-sCnc
39000-5 - 3OH-Butyrcarn SerPl-sCnc
39010-4 - Me-malonylcarn SerPl-sCnc
30531-8 - Isovaleryl+MeButyrylcarn SerPl-sCnc
69573-4 - Tgly+Mthyl (C5:1) SerPl-sCnc
51412-5 - 3OH-IV+2Me3OH-Butyr carn SerPl-sCnc
30349-5 - Glutarylcarn SerPl-sCnc
30358-6 - Hexanoylcarn SerPl-sCnc
30540-9 - Octanoylcarn SerPl-sCnc
30327-1 - Decanoylcarn SerPl-sCnc
30328-9 - Decenoylcarn SerPl-sCnc
53471-9 - Decadienoylcarn SerPl-sCnc
30331-3 - Dodecanoylcarn SerPl-sCnc
30565-6 - Tdecanoylcarn SerPl-sCnc
30566-4 - Tdecenoylcarn SerPl-sCnc
30564-9 - Tdecadienoylcarn SerPl-sCnc
30238-0 - 3OH-Tdecanoylcarn SerPl-sCnc
30356-0 - Palmitoylcarn SerPl-sCnc
30357-8 - Palmitoleylcarn SerPl-sCnc
30235-6 - 3OH-Palmitoleylcarn SerPl-sCnc
30234-9 - 3OH-Palmitoylcarn SerPl-sCnc
30560-7 - Stearoylcarn SerPl-sCnc
30542-5 - Oleoylcarn SerPl-sCnc
30534-2 - Linoleoylcarn SerPl-sCnc
35656-8 - 3OH-stearoylcarn SerPl-sCnc
30312-3 - 3OH-Oleoylcarn SerPl-sCnc
30237-2 - 3OH-Linoleoylcarn SerPl-sCnc
46252-3 - Acylcarnitine pattern SerPl-Imp
72486-4 - Lab director name Provider
49549-9 - Ref lab test method

Result Turnaround Time

3-7 days

Specimen

Plasma

Volume

0.5 mL

Minimum Volume

0.1 mL

Container

Green-top (sodium heparin) tube

Collection Instructions

Transfer plasma to a plastic transport tube and freeze. To avoid delays in turnaround time when requesting multiple tests on frozen specimens, please submit separate frozen specimens for each test requested.