Smith-Lemli-Opitz syndrome, 7-Dehydrocholesterol , Kennedy Kreiger Institute #16, EPIC: LAB6494, SOFT: X7DHC
Specimen Collection Criteria
Collect: One Green-top Lithium or Sodium Heparin tube.
Also acceptable: One Lavender-top EDTA tube or 5.0 mL Amniotic Fluid in a sterile collection container.
Physician Office/Drawsite Specimen Preparation
- Centrifuge to separate plasma from cells. Transfer plasma to a plastic transport tube and freeze (-20°C/-4°F or below).
- Centrifuge Amniotic Fluid specimens and freeze (-20°C/-4°F or below) the supernatant prior to transport.
Preparation for Courier Transport
Transport: 0.5 mL plasma or amniotic fluid supernatant, frozen (-20°C/-4°F or below). (Min: 0.05 mL)
- Specimens not collected and processed as indicated.
Tuesday, Thursday, Friday.
Results available in 3-7 days.
Gas Chromatography/Mass Spectrometry.
The 7-dehydrocholesterol test is ordered to rule out Smith-Lemli-Opitz syndrome.
Kennedy Kreiger Institute #16, EPIC: LAB6494, SOFT: X7DHC
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