Smith-Lemli-Opitz Screen, Plasma - LG5473


Sunquest Code:MMMISC  
Epic Code:LAB4909Epic 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.



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:
7-Dehydrocholesterol Less than or equal to 2.0 mg/L
8-Dehydrocholesterol Less than or equal to 0.3 mg/L
 
Use:Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).


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