Smith-Lemli-Opitz Screen, Plasma
Use
Diagnosing Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency) and fetal fentanyl syndrome. Smith-Lemli-Opitz syndrome is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to a deficiency of 7-dehydrocholesterol reductase. Elevated plasma concentrations of 7-DHC and 8-dehydrocholesterol are highly suggestive of this disorder.
Special Instructions
Biochemical Genetics Patient Information (T602) is recommended to be filled out and sent with the specimen to aid in the interpretation of test results. If not ordering electronically, complete and send a Biochemical Genetics Test Request (T798).
Limitations
On rare occasions, 7-dehydrocholesterol levels may not be elevated in patients with Smith-Lemli-Opitz syndrome. Cholesterol screening tests are unreliable for diagnosis of this syndrome, and certain medications (e.g., aripiprazole, trazodone) can cause false elevations in 7-DHC.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 73852-6
- 18771-6
- 59462-2
- 33275-9
- 34671-8
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot plasma into plastic vial. Send plasma frozen.
Causes for Rejection
Gross hemolysis (OK), Gross lipemia (OK), Gross icterus (OK)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 28 days |
| Frozen | 92 days |