Fatty Acid Oxidation Probe Assay, Fibroblast Culture
GTR Test Accession: Help GTR000603782.2
INHERITED DISEASEMETABOLIC DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2023-04-07
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Diagnosis
Disorder of fatty acid metabolism; Carnitine acylcarnitine translocase deficiency; Carnitine palmitoyl transferase II deficiency, severe infantile form; ...
Acylcarnitine Profile
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
In vitro confirmation of biochemical diagnoses of the following fatty …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
FAO
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/81927#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Fatty acid oxidation disorders. Rinaldo P, et al. Annu Rev Physiol. 2002;64:477-502. doi:10.1146/annurev.physiol.64.082201.154705. PMID: 11826276.

Target population: Help
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase (SCAD) deficiency -Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency -Trifunctional protein deficiency -Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency -Carnitine palmitoyl transferase deficiency type II (CPT-II) -Carnitine-acylcarnitine translocase (CACT) deficiency Confirmation of … View more
View citations (4)
  • Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. Shen JJ, et al. J Inherit Metab Dis. 2000;23(1):27-44. doi:10.1023/a:1005694712583. PMID: 10682306.
  • Fatty acid oxidation disorders. Rinaldo P, et al. Annu Rev Physiol. 2002;64:477-502. doi:10.1146/annurev.physiol.64.082201.154705. PMID: 11826276.
  • Fatty acid oxidation disorders. Merritt JL, et al. Ann Transl Med. 2018;6(24):473. doi:10.21037/atm.2018.10.57. PMID: 30740404.
  • Matern D, Huey JC, Gregersen N, et al: In vitro diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) deficiency. J Inherit Metab Dis. 2001;24(Suppl.1):66
Recommended fields not provided:
Technical Information
Test Procedure: Help
Skin fibroblasts are incubated with cell medium enriched with palmitic acid (C16:0 fatty acid), L-carnitine, and isotopically labeled L-valine ([13]C-Val) and L-isoleucine ([13]C-Ile). Cell lines deficient of one of the enzymes involved in fatty acid oxidation and branched chain amino acid metabolism fail to metabolize acyl-CoA species, which accumulate in … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 101%. Intra assay precision was performed at 3 levels: CV results ranged from 10.8%-22.0% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 0.45%-8.86% (N=3 each). The analytical measurement range is 0.00 -10.42 μmol/g protein
Assay limitations: Help
Sometimes, an abnormal acylcarnitine profile cannot differentiate between 2 disorders. In such instances, independent biochemical (eg, specific enzyme assay when available) or molecular genetic analyses are required. Recommendations for such testing will be included in the report.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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