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Dehydrocholesterol, 7

Smith-Lemli-Opitz syndrome, 7-Dehydrocholesterol

Test Codes

EPIC: LAB6494, Beaker: XMISC, Mayo: SLO

Department

Send Outs

Specimen Collection Criteria

Collect: One Green-top Lithium or Sodium Heparin tube.
Also acceptable: One Lavender-top EDTA tube

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).

Preparation for Courier Transport

Transport: 0.5 mL plasma, frozen (-20°C/-4°F or below). (Minimum: 0.2 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).

Transport: 0.5 mL plasma, frozen (-20°C/-4°F or below). (Minimum: 0.2 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): unacceptable
Refrigerated (2-8°C or 36-46°F): 90 days
Frozen (-20°C/-4°F or below): 90 days

Specimen Storage in Department Prior to Disposal:

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

Laboratory

Sent to Mayo Clinic Laboratories in Rochester, MN.

Performed

Tuesday, Friday.
Results available in 4-10 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

7/21/2024