Acylcarnitine Quantitative Profile, Plasma

Also known as: ACYLCARN

Clinical Use

Use

This test is used to diagnose and monitor fatty acid oxidation disorders and organic acidemias. It is particularly useful when used in conjunction with urine organic acids and acylglycines testing. Identification of abnormalities in acylcarnitine species can assist in diagnosing inherited disorders of fatty acid oxidation, such as VLCAD deficiency. Such disorders are typically genetically inherited and require detailed metabolic and genetic analysis for complete diagnosis.

Special Instructions

Not provided.

Limitations

Room temperature specimens are unacceptable. Specimens that have been refrigerated for longer than 12 hours are also not acceptable. Grossly hemolyzed specimens are a cause for rejection. After separation from cells, the specimen should be frozen immediately to maintain stability up to 1 month. Repeated freeze/thaw cycles should be avoided as they can compromise test integrity.

Test Details

New York Approved

Methodology

Mass Spectrometry

Biomarkers

29 targets

C10, DecanoylC10:1, DecenoylC12-OH, 3-OH-DodecanoylC12, DodecanoylC12:1, DodecenoylC14-OH, 3-OH-TetradecanoylC14, TetradecanoylC14:1-OH, 3-OH-Tetradecenoyl+21 more

LOINC Codes

Result Codes

39001-3 - 3OH-Isovalerylcarn SerPl-sCnc
46252-3 - Acylcarnitine pattern SerPl-Imp
30191-1 - Acetylcarn SerPl-sCnc
30551-6 - Propionylcarn SerPl-sCnc
51413-3 - Butyryl+Isobutyrylcarn SerPl-sCnc
30531-8 - Isovaleryl+MeButyrylcarn SerPl-sCnc
30349-5 - Glutarylcarn SerPl-sCnc
30358-6 - Hexanoylcarn SerPl-sCnc
30540-9 - Octanoylcarn SerPl-sCnc
30541-7 - Octenoylcarn SerPl-sCnc
30327-1 - Decanoylcarn SerPl-sCnc
30328-9 - Decenoylcarn SerPl-sCnc
30331-3 - Dodecanoylcarn SerPl-sCnc
30332-1 - Dodecenoylcarn SerPl-sCnc
30233-1 - 3OH-Dodecanoylcarn SerPl-sCnc
30565-6 - Tdecanoylcarn SerPl-sCnc
30566-4 - Tdecenoylcarn SerPl-sCnc
30564-9 - Tdecadienoylcarn SerPl-sCnc
30238-0 - 3OH-Tdecanoylcarn SerPl-sCnc
30190-3 - 3OH-Tdecenoylcarn SerPl-sCnc
30356-0 - Palmitoylcarn SerPl-sCnc
30357-8 - Palmitoleylcarn SerPl-sCnc
30234-9 - 3OH-Palmitoylcarn SerPl-sCnc
30235-6 - 3OH-Palmitoleylcarn 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

Result Turnaround Time

2-7 days

Specimen

Plasma

Volume

0.5 mL

Minimum Volume

0.2 mL

Container

Green (sodium or lithium heparin), plain red

Collection Instructions

Separate serum or plasma from cells as soon as possible or within 2 hours of collection. Transfer the serum or plasma to an ARUP standard transport tube and freeze immediately.