Smith-Lemli-Opitz Screen, Pl
Test Mnemonic
SLOSCN
CPT Codes
- 82542 - QTY (1)
Aliases
- 7-Dehydrocholesterol
- Smith Lemli Opitz
Performing Laboratory
Kennedy Krieger Institute
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Plasma | Sodium or Lithium heparin (Green) | Frozen | Centrifuge, aliquot and freeze ASAP. |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 1 mL | Plasma | EDTA (Lavender) | Frozen | Centrifuge, aliquot and freeze ASAP. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Unacceptable |
| Refrigerated | Unacceptable |
| Frozen | Indefinitely |
Days Performed
Tue - Fri
Turnaround Time
4 - 7 days
Methodology
| Name | Description |
|---|---|
| Gas Chromatography Mass Spectrometry (GCMS) |
Reference Range
| Smith-Lemli-Opitz Screen, Pl | |||||
|---|---|---|---|---|---|
| Sex | Age From | Age To | Type | Range | Range Unit |
| Normal | 0.04 - 0.36 | ug/mL |
Special Info
Centrifuge, aliquot and freeze ASAP.
Clinical Info
Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency) is an autosomal recessive disorder characterized by markedly increased plasma concentrations of 7-dehydrocholesterol (7-DHC) and 8-DHC levels. Severity ranges from mild to severe. Clinical features include microcephaly, growth retardation, developmental delay, dysmorphic facial features, limb abnormalities (especially syndactyly and polydactyly of the toes), and heart and kidney malfunctions. The estimated incidence is between 1:10,000 and 1:60,000. Elevated plasma concentrations of 7- and 8-DHC are highly suggestive of a biochemical diagnosis of Smith-Lemli-Opitz (SLO). Mild elevations of these cholesterol precursors can be detected in patients with hypercholesterolemia and in patients treated with haloperidol. However, the 7-DHC to cholesterol ratio is only elevated in SLO patients.