Lab Test

Dehydrocholesterol, 7-

Smith-Lemli-Opitz syndrome, 7-Dehydrocholesterol, Kennedy Kreiger Institute #16, EPIC: LAB6494, SOFT: X7DHC

Test Codes

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/Draw 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). (Minimum: 0.05 mL)

Rejection Criteria

  • Specimens not collected and processed as indicated.

In-Lab Processing

  • 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.

Transport: 0.5 mL plasma or amniotic fluid supernatant, frozen (-20°C/-4°F or below). (Minimum: 0.05 mL) 

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 24 hours
Refrigerated (2-8°C or 36-46°F): 48 hours
Frozen (-20°C/-4°F or below): 1 year

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Sendout Laboratory with any questions.

Laboratory

Sent to Kennedy Krieger Institute, Baltimore, MD.

Performed

Tuesday, Thursday, Friday.
Results available in 3-7 days.

Reference Range

By report.

Test Methodology

Gas Chromatography/Mass Spectrometry.

Clinical Utility

The 7-dehydrocholesterol test is ordered to rule out Smith-Lemli-Opitz syndrome.

CPT Codes

82542

Contacts

Last Updated

10/23/2019

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This directory currently reflects information only for specimens collected and/or processed at the
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