Test Id : FAPM
Fatty Acid Profile, Mitochondrial (C8-C18), Serum
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 glutaric acidemia type 2
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test can be ordered to screen patients with a suspected mitochondrial fatty acid oxidation (FAO) disorder.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Method Name
A short description of the method used to perform the test
Gas Chromatography Mass Spectrometry (GC-MS) Stable Isotope Dilution
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
C8-C18, Fatty Acid Profile
MCFA (Medium-Chain Fatty Acids)
Medium-Chain Fatty Acids (MCFA)
Mitochondrial, Fatty Acid Profile
Omega 6
Omega 7
Omega 9
Octanoic Acid
Decenoic Acid
Decanoic Acid
Lauroleic Acid
Lauric Acid
Tetradecadienoic Acid
Myristoleic Acid
Myristic Acid
Hexadecadienoic Acid
Palmitoleic Acid
Palmitic Acid
Linoleic Acid
Oleic Acid
Stearic Acid
C8:0
C10:1
C10:0
C12:1
C12:0
C14:2
C14:1
C14:0
C16:2
C16:1w7
C16:0
C18:2w6
C18:1w9
C18:0
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Specimen Type
Describes the specimen type validated for testing
Serum
Necessary Information
1. Patient's age is required.
2. Include information regarding treatment, family history, and tentative diagnosis.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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: Serum gel
Acceptable: Red Top
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.15 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 92 days | |
| Refrigerated | 72 hours |
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 glutaric acidemia type 2
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test can be ordered to screen patients with a suspected mitochondrial fatty acid oxidation (FAO) disorder.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
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 through 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 workup 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 for many of the FAO disorders is also available. For more information see FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture and HFAOP / Fatty Acid Oxidation Gene Panel, Varies
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
< or =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
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 due 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, specimen can be collected as normal.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Ann Rev Physiol. 2002;64:477-502
2. Kang E, Kim YM, Kang, M, et al. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. BMC Pediatr. 2018;18(1):103
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. 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, Magera MJ, Rinaldo P, McConnell JP. Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab. 2001;73[1]:38-45; Gramlich L, Ireton-Jones C, Miles JM, Morrison M, Pontes-Arruda A. Essential fatty acid requirements and intravenous lipid emulsions. JPEN J Parenter Enteral Nutr. 2019;43[6]:697-707)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
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
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82725
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| FAPM | Fatty Acid Profile, Mitochondrial,S | 43675-8 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 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 |