GTR Test Accession:
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GTR000603782.2
Last updated in GTR:
2023-04-07
View version history
GTR000603782.2,
last updated:
2023-04-07
GTR000603782.1,
registered in GTR:
2023-01-05
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis
Conditions (7):
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Disorder of fatty acid metabolism;
Carnitine acylcarnitine translocase deficiency;
Carnitine palmitoyl transferase II deficiency, severe infantile form
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Methods (1):
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Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Target population: Help
In vitro confirmation of biochemical diagnoses of the following fatty …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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FAO
Specimen Source:
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- Fibroblasts
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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LOINC codes:
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Lab contact:
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Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy:
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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:
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https://www.mayocliniclabs.com/test-catalog/overview/81927#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 7
Condition/Phenotype | Identifier |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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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:
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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 …
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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:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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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 …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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:
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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?
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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.
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:
Test Confirmation,
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.