Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
1-800-533-1710

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

https://www.mayocliniclabs.com/test-catalog/overview/81927#Specimen
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Test developed by laboratory (no manufacturer test name)

Based on applicable state law

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Diagnosis

Establish or confirm diagnosis

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 … 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 the following organic acid disorders: -2-Methylbutyryl-CoA dehydrogenase (SBCAD) deficiency -Isobutyryl-CoA dehydrogenase (IBD) deficiency This test is not useful for prenatal testing. This assay is not informative if the deficient enzyme is physiologically not expressed in skin fibroblasts. View more

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 … 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 the cell medium as acylcarnitines. The medium is separated from the cells following the incubation. The cell pellet is used for protein determination and the medium will be spotted and dried on filter paper. An acylcarnitine analysis is performed by tandem mass spectrometry (MS/MS) using a 1/4" filter paper punch, following the addition of isotopically labeled acylcarnitines as internal standards, extraction and derivatization to methyl esters. The assay is performed in triplicate.(Matern D: Acylcarnitines, incl. in vitro loading tests. In: Blau N, Duran M, Gibson KM, eds. Laboratory Guide to the Methods in Biochemical Genetics. Springer-Verlag; 2008; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158) View more

Tests performed
Entire test performed in-house

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

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.

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.