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Test Name:
Fatty Acid Profile, Mitochondrial (C8-C18), Serum

• SBMF No:
  42284
• Performance Lab Name:
  Mayo Medical Laboratories
• Test Mnemonic:
  FAPM
• ABN:
  Required – Not FDA-Approved
• CPT Code:
  82544
• Ref Lab Test No:
  81939
• Also Known As:
  C8-C18, Fatty Acid Profile
  Fatty Acids
  MCFA (Medium-Chain Fatty Acids)
  Medium-Chain Fatty Acids (MCFA)
  Mitochondrial, Fatty Acid Profile
  Omega 6
  Omega 7
  Omega 9
• Spec Type:
  Serum
• Spec Container:
  Gold top (SST) or red top (serum) tube
• Pref Vol:
  0.5 mL
• Min Vol:
  0.15 mL
• Fasting:
  Yes
• Patient Prep:
  Draw blood following an overnight (12-14 hours) fast
  Patient must not consume any alcohol for 24 hours before the specimen is drawn
  CAUTION: For nutritional assessment, a 12 to 14 hour fast is required; however, patients suspected of having a FAO 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.
• Spec Collect:
  Routine venipuncture
• Spec Process:
  Clot 30 minutes
  Promptly centrifuge 15 minutes
  Immediately transfer serum to separate plastic tube and freeze
• Spec Store Transport:
  Frozen
• Spec Reject:
  Non-frozen or lipemic sample
• Spec Remarks:
  Separate serum from cells within 45 minutes of collection
  Patient's age is required on request form for processing
  Include information regarding treatment, family history, and tentative diagnosis
• Methodology:
  Gas Chromatography-Mass Spectrometry (GC/MS)
  Stable Isotope Dilution Analysis
• Use:
  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.
• Clinical Significance:
  

  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 disorders(FAO) include hypoketotic hypoglycemia, liver disease and/or 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 and/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 FAOs 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 available for many of the FAOs at Mayo Medical Laboratories.

• Reference Range:
  

  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
  FAO 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).

• Additional Test Info:
  

  This test was developed and its performance characteristics determined by Laboratory Medicine and Pathology, Mayo Clinic. This test has not been cleared or approved by the U.S. Food and Drug Administration.

  Clinical Reference

  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. ten Brink HJ, Stellaard F, van den Heuvel CM et al: Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative mass fragmentography. J of Lipid Res 1992;33:41-47
  3. Rinaldo P, Matern D, Bennett MJ: Fatty acid oxidation disorders. Ann Rev Physiol 2002;64:477-502
  4. 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

• Day Run:
  Mon-Fri
• Time Run:
  7:00 am
• Time Reported:
  Within 8 days
• Test Type:
  CHEMISTRY