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22618 Fatty Acid Profile, Comprehensive (FAPCP)

Fatty Acid Profile, Comprehensive (FAPCP)
Test Code: FAPCMSO
Synonyms/Keywords
C8-C26, Fatty Acid Profile, Comprehensive Fatty Acids, Essential Fatty Acids, LCFA (Long-Chain Fatty Acids), Long-Chain Fatty Acids (LCFA), MCFA (Medium-Chain Fatty Acids), Medium-Chain Fatty Acids (MCFA), Omega 3, Omega 6, Omega 7, Omega 9, Polyunsaturated Fatty Acids, Very Long Chain Fatty Acids (VLCFA), VLCFA (Very Long Chain Fatty Acids), Octanoic Acid, Decenoic Acid, Decanoic Acid, Lauroleic Acid, Lauric Acid, Tetradecadienoic Acid, Myristoleic Acid, Myristic Acid, Hexadecadienoic Acid, Hexadecenoic Acid, Palmitoleic Acid, Palmitic Acid, Gamma-Linolenic Acid, Alpha-Linolenic Acid, Linoleic Acid, Oleic Acid, Vaccenic Acid, Stearic Acid, Eicosapentaenoic Acid, Arachidonic Acid, Mead Acid, Homo-Gamma-Linolenic Acid, Arachidic Acid, Docosahexaenoic Acid, Docosapentaenoic Acid, Docosatetraenoic Acid, Docosenoic Acid, Docosanoic Acid, Nervonic Acid, Tetracosanoic Acid, Hexacosenoic Acid, Hexacosanoic Acid, Pristanic Acid, Phytanic Acid, C8:0, C10:1, C10:0, C12:1, C12:0, C14:2, C14:1, C14:0, C16:2, C16:1w9, C16:1w7, C16:0, C18:3w6, C18:3w3, C18:2w6, C18:1w9, C18:1w7, C18:0, C20:0, C20:5w3, C20:4w6, C20:3w9, C20:3w6, C22:6w3, C22:5w6, C22:5w3, C22:4w6, C22:1, C22:0, C24:1, C24:0, C26:1, C26:0, C15:0(CH3)4, C16:0(CH3)4, EPA, DHA, DPA, Triene:Tetraene Ratio
Useful For

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

Monitoring treatment of essential fatty acid deficiency

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

Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Yes Serum​ Red Top Tube (RTT)​ Serum Separator Tube (SST)​ 0.5 mL​ 0.15 mL​
Collection Processing Instructions
​Submit sample in plastic vial.
1. For nutritional assessment, patient should fast overnight (12-14 hours); for patients with a suspected fatty acid oxidation disorder, collect prior to next feeding as fasting is contraindicated. 
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
3. Spin down.
4. Aliquot into plastic vial
 
Additional Information: 
1. Patient's age is required.
2. Include information regarding treatment, family history, and tentative diagnosis.
Specimen Stability Information
Specimen Type Temperature Time
Serum​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 72 hours​
Rejection Criteria
Gross lipemia
Interference

​For nutritional assessment, a 12- to 14-hour fast is required; however, infants or persons suspected of having a fatty acid oxidation disorder should not fast before testing owing to the possibility of acute metabolic decompensation. Instead, collect the specimen after the longest fast possible, just before feeding. In the case of a patient on total parenteral nutrition (TPN), specimen can be collected as normal.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday through Friday​ 4-7 days​
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis​
Reference Lab
Test Information

Fatty Acid Deficiency/Excess:

Fats are important sources of energy for tissues and for the function and integrity of cellular membranes. Deficiencies are commonly caused by inadequate dietary intake of lipids due to an unbalanced diet, long-term parenteral nutrition, or by intestinal malabsorption. Linoleic acid, an omega-6 fatty acid, and alpha-linolenic acid, an omega-3 fatty acid, are considered essential fatty acids in that they cannot be made by the body and are essential components of the diet.

The major clinical manifestations associated with essential fatty acid deficiency (EFAD) include dermatitis, increased water permeability of the skin, increased susceptibility to infection, and impaired wound healing. Biochemical abnormalities may be detected before the onset of recognizable clinical manifestations. EFAD can be detected by diminished levels of the essential fatty acids, linoleic and alpha-linolenic acid, as well as by increases in the triene:tetraene ratio.

Excess dietary fatty acids have been linked to the onset of cardiovascular disease. Elevated levels of linoleic acid can contribute to overproduction of the proinflammatory 2-series local hormones. The Academy of Nutrition and Dietetics recommends that dietary fat for the healthy adult population should provide 20% to 35% of energy, with an increased consumption of n-3 polyunsaturated fatty acids and limited intake of saturated and trans fats.

Fatty Acid Oxidation Disorders:

Mitochondrial beta-oxidation is the main source of energy to skeletal and heart muscle during periods of fasting. When the body's supply of glucose is depleted, fatty acids are mobilized from adipose tissue and converted to ketone bodies thorough a series of steps providing an alternate source of energy. Deficient enzymes at any step in this pathway prevent the production of energy during periods of physiologic stress such as fasting or intercurrent illness.

The major clinical manifestations associated with fatty acid oxidation (FAO) disorders include hypoketotic hypoglycemia, liver disease and failure, skeletal myopathy, dilated/hypertrophic cardiomyopathy, and sudden unexpected death in early life. Signs and symptoms may vary greatly in severity, combination, and age of presentation. Life-threatening episodes of metabolic decompensation frequently occur after periods of inadequate calorie intake or intercurrent illness. When properly diagnosed, patients with FAO disorders respond favorably to fasting avoidance, diet therapy, and aggressive treatment of intercurrent illnesses, with significant reduction of morbidity and mortality.

Disease-specific characteristic patterns of metabolites from FAO disorders are detectable in blood, bile, urine, and cultured fibroblasts of living and many deceased individuals. Quantitative determination of C8-C18 fatty acids is an important element of the work-up and differential diagnosis of candidate patients. Fatty acid profiling can detect quantitatively modest, but nevertheless significant, abnormalities even when patients are asymptomatic and under dietary treatment. Confirmatory testing via the FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture and molecular analysis are also available for many of the FAO disorders at Mayo Clinic Laboratories.

Peroxisomal Disorders:

Peroxisomes are organelles present in all human cells except mature erythrocytes. They carry out essential metabolic functions including beta-oxidation of very long-chain fatty acids (VLCFA), alpha-oxidation of phytanic acid, and biosynthesis of plasmalogen and bile acids. Peroxisomal disorders include disorders of peroxisomal biogenesis with defective assembly of the entire organelle and single peroxisomal enzyme/transporter defects where the organelle is intact, but a specific function is disrupted. Peroxisomal beta-oxidation of VLCFA is impaired in all disorders of peroxisomal biogenesis and in selected single enzyme deficiencies, particularly X-linked adrenoleukodystrophy, resulting in elevated concentrations of VLCFA in serum or plasma. POXP / Fatty Acid Profile, Peroxisomal (C22-C26), Plasma or POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum is the preferred 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). Confirmatory testing for X-linked adrenoleukodystrophy via molecular genetic analysis is available; see XALDZ / X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies.

Reference Range Information
See interpretive report
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 serum 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 serum phytanic acid (along with normal pristanic acid concentrations) are seen in the Refsum disease (phytanase deficiency). Serum phytanic acid concentration also may be increased in other peroxisomal disorders and, when combined with the VLCFA, pristanoic acid and pipecolic acid allow differential diagnosis of peroxisomal disorders.

Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
Synonyms/Keywords
C8-C26, Fatty Acid Profile, Comprehensive Fatty Acids, Essential Fatty Acids, LCFA (Long-Chain Fatty Acids), Long-Chain Fatty Acids (LCFA), MCFA (Medium-Chain Fatty Acids), Medium-Chain Fatty Acids (MCFA), Omega 3, Omega 6, Omega 7, Omega 9, Polyunsaturated Fatty Acids, Very Long Chain Fatty Acids (VLCFA), VLCFA (Very Long Chain Fatty Acids), Octanoic Acid, Decenoic Acid, Decanoic Acid, Lauroleic Acid, Lauric Acid, Tetradecadienoic Acid, Myristoleic Acid, Myristic Acid, Hexadecadienoic Acid, Hexadecenoic Acid, Palmitoleic Acid, Palmitic Acid, Gamma-Linolenic Acid, Alpha-Linolenic Acid, Linoleic Acid, Oleic Acid, Vaccenic Acid, Stearic Acid, Eicosapentaenoic Acid, Arachidonic Acid, Mead Acid, Homo-Gamma-Linolenic Acid, Arachidic Acid, Docosahexaenoic Acid, Docosapentaenoic Acid, Docosatetraenoic Acid, Docosenoic Acid, Docosanoic Acid, Nervonic Acid, Tetracosanoic Acid, Hexacosenoic Acid, Hexacosanoic Acid, Pristanic Acid, Phytanic Acid, C8:0, C10:1, C10:0, C12:1, C12:0, C14:2, C14:1, C14:0, C16:2, C16:1w9, C16:1w7, C16:0, C18:3w6, C18:3w3, C18:2w6, C18:1w9, C18:1w7, C18:0, C20:0, C20:5w3, C20:4w6, C20:3w9, C20:3w6, C22:6w3, C22:5w6, C22:5w3, C22:4w6, C22:1, C22:0, C24:1, C24:0, C26:1, C26:0, C15:0(CH3)4, C16:0(CH3)4, EPA, DHA, DPA, Triene:Tetraene Ratio
Ordering Applications
Ordering Application Description
​Centricity ​Fatty Acid Comp (C8-C26) #82042
​Cerner ​Fatty Acid Profile, Comp (C8-C26) #82042
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Yes Serum​ Red Top Tube (RTT)​ Serum Separator Tube (SST)​ 0.5 mL​ 0.15 mL​
Collection Processing
​Submit sample in plastic vial.
1. For nutritional assessment, patient should fast overnight (12-14 hours); for patients with a suspected fatty acid oxidation disorder, collect prior to next feeding as fasting is contraindicated. 
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
3. Spin down.
4. Aliquot into plastic vial
 
Additional Information: 
1. Patient's age is required.
2. Include information regarding treatment, family history, and tentative diagnosis.
Specimen Stability Information
Specimen Type Temperature Time
Serum​ ​ Frozen (preferred)​ 92 days​
Refrigerated ​ 72 hours​
Rejection Criteria
Gross lipemia
Interference

​For nutritional assessment, a 12- to 14-hour fast is required; however, infants or persons suspected of having a fatty acid oxidation disorder should not fast before testing owing to the possibility of acute metabolic decompensation. Instead, collect the specimen after the longest fast possible, just before feeding. In the case of a patient on total parenteral nutrition (TPN), specimen can be collected as normal.

Useful For

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

Monitoring treatment of essential fatty acid deficiency

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

Reference Range Information
See interpretive report
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 serum 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 serum phytanic acid (along with normal pristanic acid concentrations) are seen in the Refsum disease (phytanase deficiency). Serum phytanic acid concentration also may be increased in other peroxisomal disorders and, when combined with the VLCFA, pristanoic acid and pipecolic acid allow differential diagnosis of peroxisomal disorders.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday through Friday​ 4-7 days​
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis​
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
For most current information refer to the Marshfield Laboratory online reference manual.