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HelpTest ID SLO Smith-Lemli-Opitz Screen, Plasma
Useful For
Diagnosing Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency) and fetal fentanyl syndrome
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
PlasmaNecessary Information
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Green top (sodium or lithium heparin)
Acceptable: Lavender top (EDTA), pearl white top (EDTA plasma gel), yellow top (ACD solution A or B)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL plasma
Collection Instructions:
1. Centrifuge and aliquot plasma into plastic vial.
2. Send plasma frozen.
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Plasma | Frozen (preferred) | 92 days |
| Refrigerated | 28 days | |
| Ambient | 14 days |
Reference Values
7-dehydrocholesterol
≤2.0 mg/L
8-dehydrocholesterol
≤0.3 mg/L
Day(s) Performed
Tuesday, Friday
CPT Code Information
82542
Report Available
3 to 7 daysReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.