Fatty Acid Oxidation Probe
Label Mnemonic: FATACIDP
Epic Lab Code: LAB3111
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Fibroblasts or Skin Biopsy
Collection Medium:
Miscellaneous container; contact laboratory
Minimum:
Fibroblasts: TWO T-25 flasks filled to neck with culture media

Skin biopsy: 4-mm punch, submitted to Cytogenetics Laboratory for Fibroblast growth. Fibroblasts are submitted then to the reference laboratory.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection period is completed.
Turn Around Time:
2 weeks upon receipt at reference laboratory
Reference Range:
By interpretive report
Comments:
Useful For:
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

In addition, the following organic acid disorders can be confirmed by this assay:
-2-Methylbutyryl-CoA dehydrogenase (SBCAD) deficiency
-Isobutyryl-CoA dehydrogenase (IBD) deficiency

Please print, complete, and submit the following with the appropriate signatures and the correct sample type: Molecular Genetics: Congenital Inherited Diseases Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.
Test Limitations:
No formalin or preservatives
Methodology:
Fibroblasts incubated with Enriched Medium followed by Tandem Mass Spectrometry (MS-MS) for Acylcarnitines
CPT Code:
82017, 80500
 
See also:
RBC Total Lipid Fatty Acid, Serum