C5-DC Acylcarnitine, Quantitative, Urine


Abbrev Code:MMMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Synonyms:Glutaryl-CoA Dehydrogenase (GCDH)
Methodology:Flow injection analysis-Tandem mass spectrometry (FIA-MS/MS); Stable isotope dilution
CPT Codes: 82017 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 2-5 days.
Special Instructions:Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet and drug therapy information. A signed copy of a genetic testing consent form should be obtained by the requesting facility and documented on the request form.
Associated Links:

Genetic Testing Consent Form, Urine Collection Procedure



Collection Instructions

Specimen:Urine, random collection
Optimal Volume:Submit entire collection; analysis requires 1 mL.
Minimum\Peds Volume:1 mL
Container:Plastic leakproof container, sterile


Processing and Shipping

Specimen Processing:Mix collection well before aliquot is taken. Aliquot 5 mL, 1 mL minimum. Freeze immediately.
Shipping Instructions:Ship on dry ice.
Stability:24 hours at refrigerated temperature; 7 days frozen (preferred).
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:C5DCU


Interpretive

Reference Range:Less than 1.54 mmol/mol creatinine
Use:Diagnosis of GA-1 deficiency.


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