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Test ID: Very-long chain fatty acid profile, peroxisomal
Very-long chain fatty acid profile, peroxisomal
Useful For

This test is used to evaluate patients with possible peroxisomal disorders such as:

• Peroxisomal Biogenesis Defects(Zellweger spectrum disorder: Zellweger syndrome, NALD and infantile Refsum disease).

• Single Peroxisomal Enzyme Deficiencies (Acyl-CoA oxidase deficiency, Adult Refsum disease, 2-methylacyl-CoA racemase deficiency, D-bifunctional protein deficiency, and X-linked adrenoleukodystrophy).
Method name and description

Gas Chromatography-Mass Spectrometry (GC-MS)
Aliases

Peroxisomal, Fatty Acid Profile

VLCFA

Very long chain fatty acids
Specimen type / Specimen volume / Specimen container

Specimen type: Plasma

 

Container/Tube: EDTA, Place on ice.

Minimum Volume 0.5 ml for neonate,this volume may not allow for repeat testing.
Collection instructions / Special Precautions / Timing of collection

Patient preparation:

Adults: Fasting-overnight (12-14 hours) .

Infants and children: Draw specimen prior to next feeding or 2-3 hours after a meal
Storage and transport instructions

 

Send specimen immediately to HMC lab Central Processing (CP) areas 24/7.

Lab Note: Centrifuge Immediately or within 4 hours if specimen is stored at refrigerated temperature. Being careful to ensure that no buffy coat is transferred, aliquot plasma into tube labeled with CIS lab accession barcode number of the primary collection container (minimum requirement patient name and HC number),store at temperatures between 2 - 8 °C.

 Send the Plasma with the primary collection container to Metabolic lab from Sunday -Thursday 7:00 AM - 02:00 PM
Specimen Rejection Criteria

● Inadequate patient identification information (HC& Name).

● Sample not sent in ice/cold.Call Metabolic lab before rejection or cancelling the Order in CIS.

● Gross hemolysis.

● Gross lipemia

● Clotted blood sample.

● Sample collected in Wrong tube.
Biological reference intervals and clinical decision values

C22:0 Behenic Acid             < or =96.3  µmol/L

C24:0 Tetracosanoic Acid   < or =91.4  µmol/L

C26:0 Hexacosanoic Acid   < or =1.30  µmol/L

C24:0/C22:0 Ratio               < or =1.39

C26:0/C22:0  Ratio              < or =0.023

Pristanic acid

0-4 months:                 < or =0.60  µmol/L

5-8 months:                 < or =0.84  µmol/L

9-12 months:               < or =0.77  µmol/L

13-23 months:             < or =1.47  µmol/L

> or =24 months:         < or =2.98  µmol/L

Phytanic acid

0-4 months:                < or =5.28  µmol/L

5-8 months:                < or =5.70  µmol/L

9-12 months:              < or =4.40  µmol/L

13-23 months:            < or =8.62  µmol/L

> or =24 months:        < or =9.88  µmol/L

Pristanic acid / Phytanic acid Ratio

0-4 months:           < or =0.35

5-8 months:           < or =0.28

9-12 months:         < or =0.23

13-23 months:       < or =0.24

> or =24 months:   < or =0.39
Turnaround time / Days and times test performed / Specimen retention time

Turnaround time :10 working days.

Days and times test performed :Sunday to Thursday

Specimen retention time: One Month.

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