Smith-Lemli-Opitz Screen, Plasma - LG5473
| Sunquest Code: | MMMISC | ||
| Epic Code: | LAB4909 | Epic Name: | Send Outs Misc Test |
| Synonyms: | Smith Lemli Opitz Screen | ||
| Methodology: | Gas chromatography/Mass spectrometry (GC-MS) | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 3-9 days. | ||
| Compliance: | This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration. |
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 2 mL |
| Minimum\Peds Volume: | 0.6 mL |
| Container: | Green (sodium heparin, no gel) (Purple (EDTA)) |
| Patient Preparation: | A fasting specimen (12 hours or more) is required. For infants collect just before next feeding. |
Processing and Shipping
| Specimen Processing: | Centrifuge and aliquot 1 mL, 0.2 mL minimum within 45 minutes of collection. |
| Shipping Instructions: | Ship on dry ice. |
| Stability: | 14 days at room temperature; 28 days refrigerated; 92 days frozen (preferred). |
| Test Performed at or Referral Lab | Lab Sendouts (Mayo Medical Laboratories) |
| Referral Lab number: | SLO |
Interpretive
| Reference Range: |
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| Use: | Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). |
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