Test Catalog

Test ID: C5DCU    
C5-DC Acylcarnitine, Quantitative, Urine

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

Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC

 

Diagnosis of glutaric aciduria type 1 deficiency

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

Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC. The results are not informative when patient is receiving L-carnitine supplements.

Highlights

Elevated glutarylcarnitine (C5DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1.

 

Urine C5DC is a biochemical marker of GA-1 that appears to be elevated even in low excretors, who are affected patients with normal levels of glutaric acid in urine.

 

If patient is receiving L-carnitine supplementation, the result of this urine acylcarnitine test will not be informative.

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

C5-DC Acylcarnitine, QN, U

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

Acylcarnitines, urine
GA 1
GA1
GCDH (Glutaryl-CoA Dehydrogenase) Deficiency
Glutaric Aciduria 1 (GA1) (GA 1)
Glutaric Aciduria Type 1
Glutaryl-CoA Dehydrogenase (GCDH) Deficiency
GAI
GA I
Glutarylcarnitine