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Test Code PFAPC Fatty Acid Profile, Comprehensive (C8-C26), Plasma

Useful For

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using plasma specimens

 

Monitoring treatment of essential fatty acid deficiency

 

Monitoring the response to provocative tests (fasting tests, loading tests)

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Reporting Name

Fatty Acid Profile, Comprehensive, P

Specimen Type

Plasma


Ordering Guidance


This test is not the recommended initial screening test for evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy, or peroxisomal biogenesis disorders (Zellweger syndrome spectrum). For these purposes, the preferred tests are either POXP / Fatty Acid Profile, Peroxisomal (C22-C26), Plasma or POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum.



Necessary Information


1. Patient's age is required.

2. Include information regarding treatment, family history, and tentative diagnosis.



Specimen Required


Patient Preparation:

1. For nutritional assessment, patient should fast overnight (12-14 hours); for patients with a suspected fatty acid oxidation disorder, collect immediately before next feeding as fasting is contraindicated.

2. Patient must not consume any alcohol for 24 hours before the specimen collection.

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or green top (lithium heparin)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions: Centrifuge and aliquot plasma into plastic vial.


Specimen Minimum Volume

0.15 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 92 days
  Refrigerated  72 hours

Reference Values

Octanoic Acid, C8:0

<1 year: 7-63 nmol/mL

1-17 years: 9-41 nmol/mL

≥18 years: 8-47 nmol/mL

 

Decenoic Acid, C10:1

<1 year: 0.8-4.8 nmol/mL

1-17 years: 1.6-6.6 nmol/mL

≥18 years: 1.8-5.0 nmol/mL

 

Decanoic Acid, C10:0

<1 year: 2-62 nmol/mL

1-17 years: 3-25 nmol/mL

≥18 years: 2-18 nmol/mL

 

Lauroleic Acid, C12:1

<1 year: 0.6-4.8 nmol/mL

1-17 years: 1.3-5.8 nmol/mL

≥18 years: 1.4-6.6 nmol/mL

 

Lauric Acid, C12:0

<1 year: 6-190 nmol/mL

1-17 years: 5-80 nmol/mL

≥18 years: 6-90 nmol/mL

 

Tetradecadienoic Acid, C14:2

<1 year: 0.3-6.5 nmol/mL

1-17 years: 0.2-5.8 nmol/mL

≥18 years: 0.8-5.0 nmol/mL

 

Myristoleic Acid, C14:1

<1 year: 1-46 nmol/mL

1-17 years: 1-31 nmol/mL

≥18 years: 3-64 nmol/mL

 

Myristic Acid, C14:0

<1 year: 30-320 nmol/mL

1-17 years: 40-290 nmol/mL

≥18 years: 30-450 nmol/mL

 

Hexadecadienoic Acid, C16:2

<1 year: 4-27 nmol/mL

1-17 years: 3-29 nmol/mL

≥18 years: 10-48 nmol/mL

 

Hexadecenoic Acid, C16:1w9

<1 year: 21-69 nmol/mL

1-17 years: 24-82 nmol/mL

≥18 years: 25-105 nmol/mL

 

Palmitoleic Acid, C16:1w7

<1 year: 20-1,020 nmol/mL

1-17 years: 100-670 nmol/mL

≥18 years: 110-1,130 nmol/mL

 

Palmitic Acid, C16:0

<1 year: 720-3,120 nmol/mL

1-17 years: 960-3,460 nmol/mL

≥18 years: 1,480-3,730 nmol/mL

 

Gamma-Linolenic Acid, C18:3w6

<1 year: 6-110 nmol/mL

1-17 years: 9-130 nmol/mL

≥18 years: 16-150 nmol/mL

 

Alpha-Linolenic Acid, C18:3w3

<1 year: 10-190 nmol/mL

1-17 years: 20-120 nmol/mL

≥18 years: 50-130 nmol/mL

 

Linoleic Acid, C18:2w6

≤31 days: 350-2,660 nmol/mL

32 days-11 months: 1,000-3,300 nmol/mL

1-17 years: 1,600-3,500 nmol/mL

≥18 years: 2,270-3,850 nmol/mL

 

Oleic Acid, C18:1w9

<1 year: 250-3,500 nmol/mL

1-17 years: 350-3,500 nmol/mL

≥18 years: 650-3,500 nmol/mL

 

Vaccenic Acid, C18:1w7

<1 year: 140-720 nmol/mL

1-17 years: 320-900 nmol/mL

≥18 years: 280-740 nmol/mL

 

Stearic Acid, C18:0

<1 year: 270-1,140 nmol/mL

1-17 years: 280-1,170 nmol/mL

≥18 years: 590-1,170 nmol/mL

 

EPA, C20:5w3

<1 year: 2-60 nmol/mL

1-17 years: 8-90 nmol/mL

≥18 years: 14-100 nmol/mL

 

Arachidonic Acid, C20:4w6

<1 year: 110-1,110 nmol/mL

1-17 years: 350-1,030 nmol/mL

≥18 years: 520-1,490 nmol/mL

 

Mead Acid, C20:3w9

≤31 days: 8-60 nmol/mL

32 days-11 months: 3-24 nmol/mL

≥1 year: 7-30 nmol/mL

 

Homo-Gamma-Linolenic Acid, C20:3w6

<1 year: 30-170 nmol/mL

1-17 years: 60-220 nmol/mL

≥18 years: 50-250 nmol/mL

 

Arachidic Acid, C20:0

<1 year: 30-120 nmol/mL

1-17 years: 30-90 nmol/mL

≥18 years: 50-90 nmol/mL

 

DHA, C22:6w3

<1 year: 10-220 nmol/mL

1-17 years: 30-160 nmol/mL

≥18 years: 30-250 nmol/mL

 

DPA, C22:5w6

<1 year: 3-70 nmol/mL

1-17 years: 10-50 nmol/mL

≥18 years: 10-70 nmol/mL

 

DPA, C22:5w3

<1 year: 6-110 nmol/mL

1-17 years: 30-270 nmol/mL

≥18 years: 20-210 nmol/mL

 

DTA, C22:4w6

<1 year: 2-50 nmol/mL

1-17 years: 10-40 nmol/mL

≥18 years: 10-80 nmol/mL

 

Docosenoic Acid, C22:1

<1 year: 2-20 nmol/mL

≥1 year: 4-13 nmol/mL

 

Docosanoic Acid, C22:0

0.0-96.3 nmol/mL

 

Nervonic Acid, C24:1

<1 year: 30-150 nmol/mL

1-17 years: 50-130 nmol/mL

≥18 years: 60-100 nmol/mL

 

Tetracosanoic Acid, C24:0

0.0-91.4 nmol/mL

 

Hexacosenoic Acid, C26:1

<1 year: 0.2-2.1 nmol/mL

≥1 year: 0.3-0.7 nmol/mL

 

Hexacosanoic Acid, C26:0

0.00-1.30 nmol/mL

 

Pristanic Acid, C15:0(CH3)4

≤4 months: 0.00-0.60 nmol/mL

5-8 months: 0.00-0.84 nmol/mL

9-12 months: 0.00-0.77 nmol/mL

13-23 months: 0.00-1.47 nmol/mL

≥2 years: 0.00-2.98 nmol/mL

 

Phytanic Acid, C16:0(CH3)4

≤4 months: 0.00-5.28 nmol/mL

5-8 months: 0.00-5.70 nmol/mL

9-12 months: 0.00-4.40 nmol/mL

13-23 months: 0.00-8.62 nmol/mL

≥2 years: 0.00-9.88 nmol/mL

 

Triene/Tetraene Ratio

≤31 days: 0.017-0.083

32 days-17 years: 0.013-0.050

≥18 years: 0.010-0.038

 

Total Saturated Acid

<1 year: 1.2-4.6 mmol/L

1-17 years: 1.4-4.9 mmol/L

≥18 years: 2.5-5.5 mmol/L

 

Total Monounsaturated Acid

<1 year: 0.3-4.6 mmol/L

1-17 years: 0.5-4.4 mmol/L

≥18 years: 1.3-5.8 mmol/L

 

Total Polyunsaturated Acid

<1 year: 1.1-4.9 mmol/L

1-17 years: 1.7-5.3 mmol/L

≥18 years: 3.2-5.8 mmol/L

 

Total w3

<1 year: 0.0-0.4 mmol/L

1-17 years: 0.1-0.5 mmol/L

≥18 years: 0.2-0.5 mmol/L

 

Total w6

<1 year: 0.9-4.4 mmol/L

1-17 years: 1.6-4.7 mmol/L

≥18 years: 3.0-5.4 mmol/L

 

Total Fatty Acids

<1 year: 3.3-14.0 mmol/L

1-17 years: 4.4-14.3 mmol/L

≥18 years: 7.3-16.8 mmol/L

Interpretation

An increased triene:tetraene ratio is consistent with essential fatty acid deficiency.

 

Fatty acid oxidation disorders are recognized on the basis of disease-specific patterns that are correlated to the results of other investigations in plasma (carnitine, acylcarnitines) and urine (organic acids, acylglycines).

 

Increased concentrations of very long-chain fatty acids (VLCFA) C24:0 and C26:0 are seen in peroxisomal disorders, X-linked adrenoleukodystrophy, adrenomyeloneuropathy, and Zellweger syndrome (cerebrohepatorenal syndrome).

 

Increased concentrations of phytanic acid (along with normal pristanic acid concentrations) are seen in Refsum disease (phytanase deficiency). Phytanic acid concentration also may be increased in other peroxisomal disorders and, when combined with the VLCFA, pristanic acid, and pipecolic acid, allows differential diagnosis of peroxisomal disorders.

Clinical Reference

1. Vannice G, Rasmussen H. Position of the Academy of Nutrition and Dietetics: Dietary fatty acids for healthy adults. J Acad Nutr Diet. 2014;114(1):136-153

2. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol. 2002;64:477-502

3. Jeppesen PB, Christensen MS, Hoy CE, Mortensen PB. Essential fatty acid deficiency in patients with severe fat malabsorption. Am J Clin Nutr. 1997;65(3):837-843

4. VerHoeven NM, Jakobs C. Human metabolism of phytanic acid and pristanic acid. Prog Lipid Res. 2001;40(6):453-466

5. Luszczki E, Boakye F, Zielinska M, et al. Vegan diet: nutritional components, implementation, and effects on adults' health. Front Nutr. 2023 9;10:1294497. doi:10.3389/fnut.2023.1294497

6. Spector AA, Kim HY. Discovery of essential fatty acids. J. Lipid Res. 2015;56(1):11-21

Day(s) Performed

Monday through Friday

Report Available

3 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82725

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PFAPC Fatty Acid Profile, Comprehensive, P 43674-1

 

Result ID Test Result Name Result LOINC Value
36595 Octanoic Acid, C8:0 35145-2
36596 Decenoic Acid, C10:1 35147-8
36597 Decanoic Acid, C10:0 35146-0
36598 Lauroleic Acid, C12:1 35151-0
36599 Lauric Acid, C12:0 35150-2
36600 Tetradecadienoic Acid, C14:2 35148-6
36601 Myristoleic Acid, C14:1 35158-5
36602 Myristic Acid, C14:0 35157-7
36603 Hexadecadienoic Acid, C16:2 35154-4
36604 Hexadecenoic Acid, C16:1w9 35155-1
36605 Palmitoleic Acid, C16:1w7 35162-7
36606 Palmitic Acid, C16:0 35161-9
36607 g-Linolenic Acid, C18:3w6 35163-5
36608 a-Linolenic Acid, C18:3w3 35164-3
36609 Linoleic Acid, C18:2w6 35165-0
36610 Oleic Acid, C18:1w9 35166-8
36611 Vaccenic Acid, C18:1w7 35167-6
36612 Stearic Acid, C18:0 35149-4
36613 EPA, C20:5w3 35173-4
36614 Arachidonic Acid, C20:4w6 35168-4
36615 Mead Acid, C20:3w9 35172-6
36616 h-g-Linolenic Acid, C20:3w6 35171-8
36617 Arachidic Acid, C20:0 35169-2
36618 DHA, C22:6w3 35174-2
36619 DPA, C22:5w6 35181-7
36620 DPA, C22:5w3 35180-9
36621 DTA, C22:4w6 35182-5
36622 Docosenoic Acid, C22:1 35160-1
36623 Docosanoic Acid, C22:0 30194-5
36624 Nervonic Acid, C24:1w9 35170-0
36625 Tetracosanoic Acid, C24:0 30195-2
36626 Hexacosenoic Acid, C26:1 33036-5
36627 Hexacosanoic Acid, C26:0 30197-8
36628 Pristanic Acid, C15:0(CH3)4 22761-1
36629 Phytanic Acid, C16:0(CH3)4 22671-2
36630 Triene Tetraene Ratio 35411-8
36631 Total Saturated 35175-9
36632 Total Monounsaturated 35176-7
36633 Total Polyunsaturated 35177-5
36634 Total w3 35178-3
36635 Total w6 35179-1
36636 Total Fatty Acids 24461-6
36637 Interpretation (PFAPC) 59462-2