Casandra
Casandra Test Code QD63461Version 1 (DRAFT)
Performing Lab
Smith‑Lemli‑Opitz Screen, Plasma
Also known as: RSH Syndrome, Smith Lemli Opitz (SLO), 7DHC, 7-DHC, 8DHC
Clinical Use
Order TestUse
Screening for Smith‑Lemli‑Opitz syndrome via measurement of plasma dehydrocholesterol levels, aiding in assessment of 7‑dehydrocholesterol reductase deficiency.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
Mass Spectrometry
Biomarkers
7‑Dehydrocholesterol
Analyte7‑Dehydrocholesterol • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)
8‑Dehydrocholesterol
Analyte8‑Dehydrocholesterol • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)
LOINC Codes
Order Codes
- 33275-9
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Plasma
Volume
1 mL plasma preferred; minimum 0.1 mL
Minimum Volume
0.1 mL plasma
Container
Lavender (EDTA) tube; green top acceptable
Storage Instructions
Freeze at ‑20 °C; Ship frozen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Room temperature unacceptable |
| Refrigerated | Refrigerated ≤48 hours |
| Frozen | Frozen indefinite at ‑20 °C |