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Test Code MISC2MAYOFAO Fatty Acid Oxidation Probe Assay, Fibroblast Culture

Reporting Name

Fatty Acid Ox Probe Assay, Fibro

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

 

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.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes Yes
CRYOB Cryopreserve for Biochem Studies No Yes

Testing Algorithm

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of assays ordered. If viable cells are not obtained within 30 days, client will be notified.

 

See Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma or serum C5 acylcarnitine elevations) in Special Instructions.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Tissue


Advisory Information


This test is recommended only after appropriate analyte testing including acylcarnitines, organic acids, acylglycines, and/or fatty acids (ACRN / Acylcarnitines, Quantitative, Plasma; OAU / Organic Acids Screen, Urine; ACYLG / Acylglycines, Quantitative, Urine; FAPCP / Fatty Acid Profile, Comprehensive [C8-C26], Serum).



Necessary Information


Provide clinical information



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated 24 hours

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Stability Information

Specimen Type Temperature Time
Tissue Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82017-Acylcarnitines; quantitative, each specimen

88233-Fibroblast culture

88240-Cryopreservation for biochemical studies

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FAO Fatty Acid Ox Probe Assay, Fibro 35574-3

 

Result ID Test Result Name Result LOINC Value
23487 Interpretation 59462-2
23489 Reviewed By 18771-6

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Specimen in formalin or fixative preservative

Method Name

FAO: Fibroblasts Incubated with Enriched Medium Followed by Tandem Mass Spectrometry (MS/MS) for Acylcarnitines

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.