Very Long-Chain and Branched-Chain Fatty Acids Profile

2004250
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Patient History for X-Linked Adrenoleukodystrophy (ABCD1) Genetic Testing

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Additional Technical Information

Ordering Recommendation

Initial test to screen for disorders of peroxisomal biogenesis and/or function, including X-linked adrenoleukodystrophy and Zellweger syndrome. This test does not detect essential fatty acid deficiency and should not be used to evaluate nutritional status.

Mnemonic

VLCFA

Methodology

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Performed

Tue

Reported

2-9 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Adults: Fasting specimen preferred.
Infants and children: Draw specimen prior to feeding or 2-3 hours after a meal.

Collect

Green (sodium or lithium heparin) or lavender (EDTA).

Specimen Preparation

Separate plasma from cells. Transfer 0.5 mL plasma to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.2 mL)

Storage/Transport Temperature

CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.

Unacceptable Conditions

Room temperature specimens greater than 24 hours. Refrigerated specimens greater than 48 hours. Specimens exposed to more than one freeze/thaw cycle.

Remarks

Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g.TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.

Stability

After separation from cells: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: 1 month

Reference Interval

Available Separately Component
 0-11 months
 1 year to 2 years
 3 years to 6 years
 7 years and older
No Pristanic Acid Less than 0.31 µmol/L Less than 0.55 µmol/L Less than 0.46 µmol/L Less than 0.26 µmol/L
No Phytanic Acid 0.03-2.13 µmol/L 0.23-5.03 µmol/L 0.33-2.53 µmol/L 0.25- 2.07 µmol/L
No Ratio Pristanic Acid to Phytanic Acid Less than 0.91 Less than 0.28 Less than 0.28 Less than 0.28
No C22:0 Behenic Acid 28.94-93.50 µmol/L 28.94-93.50 µmol/L 28.94-93.50 µmol/L 28.94-93.50 µmol/L
No C24:0 Tetracosanoic Acid 24.25-77.75 µmol/L 24.25-77.75 µmol/L 24.25-77.75 µmol/L 24.25-77.75 µmol/L
No C26:0 Hexacosanoic Acid 0.17-0.73 µmol/L 0.17-0.73 µmol/L 0.17-0.73 µmol/L 0.17-0.73 µmol/L
No Ratio C24:0 to C22:0 0.64-1.02 0.64-1.02 0.64-1.02 0.64-1.02
No Ratio C26:0 to C22:0 0.003-0.015 0.003-0.015 0.003-0.015 0.003-0.015

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

82726

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Components

Component Test Code* Component Chart Name LOINC
2004251 Fatty Acids Profile Interpretation 49263-7
2004252 Pristanic Acid 22761-1
2004253 Phytanic Acid 22671-2
2004256 C22:0 Behenic Acid 30194-5
2004257 C24:0 Tetracosanoic Acid 30195-2
2004259 C26:0 Hexacosanoic Acid 30197-8
2004260 Ratio Pristanic to Phytanic 30550-8
2004261 Ratio C24:0 to C22:0 30196-0
2004262 Ratio C26:0 to C22:0 30198-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • VLCFA and BCFA
Very Long-Chain and Branched-Chain Fatty Acids Profile