VLCFA, Phytanic Acid and Pristanic Acid Plasma / Peroxisomal Disorders Panel

BC6462

Synonym(s):
Specimen Container
Lithium heparin tube
(To be obtained from DPLM Client Services, after office hour call extension 1352)
Specimen Requirement
Whole Blood
1 mL
Specimen Storage/Transport
Send specimen directly to the laboratory. Please send with a separate ice pack.
Orderable as Urgent? No
Turn Around Time
2 - 3 weeks
Reference Value(s)
Docosanoic acid
(C22)
​30-112 µmol/L
Tetracosanoic acid
(C24)
14-80 µmol/L
Hexacosanoic acid
(C26)
0.33-1.50 µmol/L
C24:220.44-1.05
C26:220.005-0.030
Pristanic acid0.00-2.0 µmol/L
Phytanic acid​0.2-19.3 µmol/L
Testing Laboratory Location KKH
Laboratory Biochemical Genetics Lab
Contact Number 6394 8728
Day and Time Performed
Mon – Fri: 0900 hrs – 1800 hrs
Orderable on CPOE? Yes
Downtime Form

Biochemical Genetics Lab

Additional Information
Useful For​
  • Measuring the following VLCFAs: docosanoic acid (C22), tetracosanoic acid (C24), hexacosanoic acid (C26) and branch-chain fatty acids such as phytanic acid and pristanic acid.
  • A significant proportion of inherited disorders of peroxisomal biogenesis feature abnormal concentrations of VLCFAs in blood and tissues.
  • Phytanic acid and pristanic acid are both markers for peroxisome biogenesis disorders as well as specific isolated defects affecting their oxidation.
​Clinical Indication
  • Skeletal abnormalities
  • Dysmorphic features
  • Hyperintestinal dysfunction
​Interpretation​Plasma very long chain fatty acids are elevated in peroxisomal disorders such as Adrenoleukodystrophy (ALD). Refsum disease and Zellweger Syndrome. Phytanic acid may also be raised in Refsum's disease.
 

 For URGENT analysis, contact the Biochemical Genetics laboratory at 6394 8728 or the Lead Scientist at 8388 8741 to discuss.
 
If sent after office hours, plasma will be separated and stored in Clinical Laboratory -20°C freezer.

Change History Notes

  • 02 Jul 2025 03:00 PM

    Update reference value units and day/time performed.

  • 01 Jul 2025 02:00 PM

    Update reference value table format.

  • 09 Feb 2023 05:10 PM

    ​update specimen container to be obtained at DPLM Client Services.


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Last Updated - 02 Jul 2025