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HelpOrder Code FAPM Fatty Acid Profile, Mitochondrial (C8-C18), Serum
Reporting Name
Fatty Acid Profile, Mitochondrial,SUseful For
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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumNecessary 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: Serum gel
Acceptable: Red Top
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Specimen Minimum Volume
0.15 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | 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
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
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
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
Day(s) Performed
Monday through Friday
CPT Code Information
82725
Genetics Test Information
This test can be ordered to screen patients with a suspected mitochondrial fatty acid oxidation (FAO) disorder.
Method Description
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)
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Method Name
Gas Chromatography Mass Spectrometry (GC-MS) Stable Isotope Dilution
Testing Algorithm
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.