C4 Acylcarnitine, Quantitative, Urine
| Abbrev Code: | MMMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Synonyms: | IBDH Deficiency; Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency | ||
| Methodology: | Flow injection Analysis-Tandem mass spectrometry (MS/MS) | ||
| 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 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: | |||
Collection Instructions
| Specimen: | Urine |
| 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: | C4U |
Interpretive
| Reference Range: | Less than 3.00 mmol/mol creatinine |
| Use: | Newborn screening follow-up for isolated C4 acylcarnitine elevations. |
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