C5-DC Acylcarnitine, Quantitative
Label Mnemonic: C5DCU
Epic code: LAB8445
Downtime form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mailout Laboratory
6240-8 RCP
356-8593
Specimen(s):
Urine
Specimen Instructions:
Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Collection Medium:
Yellow top round bottom tube (no additive)
Minimum:
Preferred Minimim: 5 mL urine
Absolute Minimum: 1 mL urine
Delivery Instructions:
Keep on ice and deliver to laboratory immediately.
Turn Around Time:
2 days upon receipt at reference laboratory (not reported on Sunday)
Reference Range:
<1.54 millimoles/mole creatinine
Interpretive Data:
Elevated excretion of C5-DC is a specific biochemical marker of glutaric aciduria type 1 that is elevated in affected patients, apparently even in low excretors or those affected individuals with normal levels of glutaric acid in urine.
Comments:
Please print, complete and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen.

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

Diagnosis of glutaric aciduria type 1 deficiency

Cautions:
The results of urine acylcarnitines are not informative when the patient is receiving L-carnitine supplements.
Methodology:
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
CPT Code:
82017