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

Test Code:

BC6462

Synonym(s):

Specimen Container

Lithium heparin tube

(To be obtained from DPLM Reception, after office hour call extension 1383)

Specimen Requirement

Whole Blood
1 mL

Specimen Storage / Transport

Send specimen directly to the laboratory. Please send with a separate ice pack.

Method

Orderable as STAT?

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
C24:22	0.44-1.05
C26:22	0.005-0.030
Pristanic acid	0.00-2.0 µmol/L
Phytanic acid	0.2-19.3 µmol

Testing Laboratory Location

KKH

Laboratory

Biochemical Genetics Lab

Contact Number

6394 8728

Day and Time Performed

Mon – Fri: 0900 hrs – 1800 hrs
Last specimen reciept time is at 1730 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.