C5-DC Acylcarnitine, Quantitative - UI Health Care

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C5-DC Acylcarnitine, Quantitative
Label Mnemonic: C5DCU
Epic code: LAB8445
Downtime form: 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

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