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Test ID: C4U    
C4 Acylcarnitine, Quantitative, Urine

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Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with abnormal newborn screens showing elevations of iso-/butyrylcarnitine (C4) to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test is used to differentiate the potential diagnoses of short chain acyl-CoA dehydrogenase (SCAD) versus isobutyryl-CoA dehydrogenase deficiency.

Highlights

Elevated iso-/butyrylcarnitine (C4) in plasma or newborn screening blood spots is due to either short chain acyl-CoA dehydrogenase (SCAD) deficiency or isobutyryl-CoA dehydrogenase (IBD) deficiency.

 

Urine C4 results can distinguish between SCAD deficiency, which results in normal C4 in urine, and IBD deficiency, which results in elevated C4 in urine.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevation) in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

C4 Acylcarnitine, QN, U

Aliases Lists additional common names for a test, as an aid in searching

Acylcarnitines, urine
Butyrylcarnitine
Isobutyryl
Isobutyrylcarnitine
IBDH (Isobutyryl-CoA Dehydrogenase) Deficiency
Isobutyryl-CoA Dehydrogenase (IBDH) Deficiency
Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency