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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 GA-1 deficiency

Genetics Test Information Provides information that may help with selection of the correct 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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

An isolated elevation of glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is related to a diagnosis of glutaryl-CoA dehydrogenase (GA-1) deficiency. Follow-up testing is necessary for confirmation. Urinary excretion of C5-DC is a specific biochemical marker of GA-1 that appears to be elevated even in low excretors, affected patients with normal levels of glutaric acid.

 

The American College of Medical Genetics (ACMG) newborn screening work group published diagnostic algorithms for the follow-up of infants who had a positive newborn screening result. For further information, see http://www.acmg.net.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

<1.54 millimoles/mole creatinine

Interpretation Provides information to assist in interpretation of the test results

Elevated excretion of C5-DC is a specific biochemical marker of GA-1 that appears to be elevated even in low excretors, affected patients with normal levels of glutaric acid.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The results of urine acylcarnitines are not informative when the patient is receiving L-carnitine supplements.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

Tortorelli S, Hahn SH, Cowan TM, et al: The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab 2005;84:137-143

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test