Smith-Lemli-Opitz Screen, Plasma
Abbrev Code: | MMMISC | ||
Order Code: | LAB4909 | Order Name: | Send Outs Misc Test |
Synonyms: | Smith Lemli Opitz Screen | ||
Methodology: | Gas chromatography/Mass spectrometry (GC-MS) | ||
CPT Codes: | 82542 x1 | ||
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. |
Collection Instructions
Specimen: | Blood |
Optimal Volume: | 2 mL |
Minimum\Peds Volume: | 0.6 mL |
Container: | Green (sodium heparin, no gel) Alternate Containers: 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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