Test ID: FAPM
Fatty Acid Profile, Mitochondrial (C8-C18), Serum
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation, including deficiencies of medium-chain acyl-Co-A dehydrogenase, long-chain 3-hydroxyacyl-Co-A dehydrogenase, very long-chain acyl-Co-A dehydrogenase, and glutaricacidemia type 2.
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation
Method Name A short description of the method used to perform the test
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
MCFA (Medium-Chain Fatty Acids)
Medium-Chain Fatty Acids (MCFA)
Mitochondrial, Fatty Acid Profile
Omega 6
Omega 7
Omega 9
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Fasting-overnight (12-14 hours).
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
3. Spin down within 45 minutes of draw.
Additional Information:
1. Patient's age is required.
2. Include information regarding treatment, family history, and tentative diagnosis.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | Mild OK; Gross OK |
| Lipemia | Mild reject; Gross reject |
| Icterus | Mild OK; Gross OK |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen (preferred) | 90 days |
| Refrigerated | 24 hours |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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. Enzyme and molecular confirmatory testing is also available for many of the FAO disorders at Mayo Medical Laboratories.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Octanoic Acid, C8:0
<1 year: 7-63 nmol/mL
1-17 years: 9-41 nmol/mL
> or =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
> or =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
> or =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
> or =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
> or =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
> or =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
> or =18 years: 3-64 nmol/mL
Myristic Acid, C14:0
<1 year: 30-320 nmol/mL
1-17 years: 40-290 nmol/mL
> or =18 years: 30-450 nmol/mL
Hexadecadienoic Acid, C16:2
<1 year: 4-27 nmol/mL
1-17 years: 3-29 nmol/mL
> or =18 years: 10-48 nmol/mL
Palmitoleic Acid, C16:1w7
<1 year: 20-1,020 nmol/mL
1-17 years: 100-670 nmol/mL
> or =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
> or =18 years: 1,480-3,730 nmol/mL
Linoleic Acid, C18:2w6
1-31 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
> or =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
> or =18 years: 650-3,500 nmol/mL
Stearic Acid, C18:0
<1 year: 270-1,140 nmol/mL
1-17 years: 280-1,170 nmol/mL
> or =18 years: 590-1,170 nmol/mL
Interpretation Provides information to assist in interpretation of the test results
Fatty acid oxidation disorders are recognized on the basis of disease-specific metabolite patterns that are correlated to the results of other investigations in plasma (carnitine, acylcarnitines) and urine (organic acids, acylglycines).
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
For nutritional assessment, a 12- to 14-hour fast is required; however, patients suspected of having a fatty acid oxidation disorder should not fast before testing owing to the possibility of acute metabolic decompensation. Instead, draw the specimen after the longest fast possible, just before feeding.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Stellaard F, ten Brink HJ, Kok RM et al: Stable isotope dilution analysis of very long chain fatty acids in plasma, urine, and amniotic fluid by electron capture negative ion mass fragmentography. Clin Chim Acta 1990;192:133-144
2. Rinaldo P, Matern D, Bennett MJ: Fatty acid oxidation disorders. Ann Rev Physiol 2002;64:477-502
3. Lagerstedt SA Hinrichs DR, Batt SM, et al: Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Gen Metab 2001;73(1):38-45
Method Description Describes how the test is performed and provides a method-specific reference
Quantitation of fatty acids of specific chain lengths is performed as follows. A 2-step, acid-base hydrolysis is followed by hexane extraction and derivatization with pentafluorobenzyl bromide. Separation and detection are accomplished by capillary gas chromatography electron-capture negative ion-mass spectrometry.(1,2) Quantitation is based on analysis in the selected ion-monitoring mode by using 13 stable isotope-labeled internal standards. (Lagerstedt SA, Hinrichs DR, Batt SM, et al: Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab 2001;73:38-45)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 7am
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
82544
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 17007 | Octanoic Acid, C8:0 | 35145-2 |
| 17008 | Decenoic Acid, C10:1 | 35147-8 |
| 17009 | Decanoic Acid, C10:0 | 35146-0 |
| 17010 | Lauroleic Acid, C12:1 | 35151-0 |
| 17011 | Lauric Acid, C12:0 | 35150-2 |
| 17012 | Tetradecadienoic Acid, C14:2 | 35148-6 |
| 17013 | Myristoleic Acid, C14:1 | 35158-5 |
| 17014 | Myristic Acid, C14:0 | 35157-7 |
| 17015 | Hexadecadienoic Acid, C16:2 | 35154-4 |
| 17016 | Palmitoleic Acid, C16:1w7 | 35162-7 |
| 17017 | Palmitic Acid, C16:0 | 35161-9 |
| 17018 | Linoleic Acid, C18:2w6 | 35165-0 |
| 17019 | Oleic Acid, C18:1w9 | 35166-8 |
| 17020 | Stearic Acid, C18:0 | 35149-4 |
| 17055 | Interpretation | 59462-2 |
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