Test Catalog

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Fatty Acid Profile, Mitochondrial,S

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.

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 prior to next feeding as fasting is contraindicated.

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

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

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

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

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.

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 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 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 Mar 8;18(1):103

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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 May;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 Aug;43[6]:697-707)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

3 to 5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

2 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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 Regional Manager. 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. This test 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.

82542

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports