7-dehydrocholesterol (7-DHC); 8-dehydrocholesterol (8-DHC); cholestanol; desmosterol; lanosterol; lathosterol; sitosterol
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Sterol Profile, Serum/Plasma
Test ID: STEROL SP
Test
Method
LC/MS
Report Includes
Specimens
Avoid gel separator tubes; Serum; Plasma (Heparin)
Clinical Utility
7- and 8-dehydrocholesterol are biomarkers for the diagnosis of the cholesterol biosynthesis defect Smith-Lemli-Opitz syndrome (SLOS).
Cholesterol biosynthesis disorders present with multiple congenital anomalies (most) or neurological symptoms with cerebrotendenous xanthomas (CTX).
Cholestanol (5α-cholestan-3β-ol) is elevated in cerebrotendenous xanthomatosis (CTX).
Desmosterol is elevated in desmosterolosis.
Lanosterol may be elevated in Antley-Bixler Syndrome-1.
Lathosterol is elevated in lathosterolosis.
Sitosterol is elevated in sitosterolemia, which presents with xanthomas and accelerated atherosclerosis.
Test Location
Laboratory Reference Centre, 237 Barton Street E, Hamilton ON L8L 2X2
Test Version
5-Jan-2023
Specimen
Specimens
Avoid gel separator tubes; Serum; Plasma (Heparin)
Sample Volume
0.5 mL
Specimen Comment
Avoid gel separator tubes.
Pediatric Volume
0.2 mL
Patient Preparation
Fasting specimen preferred.
Collection & Handling
Handling Information
Store and submit specimen protected from light in an amber vial.
Store and send frozen.
Rejection Criteria
| Specimen | Not protected from light or gel separator tube |
|---|
Test Version
5-Jan-2023
Performance / Interpretation
Method
LC/MS
Turnaround Time
30 days
Results
| Name | Units | Reference Range | Conversion Factor | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sterol Profile | µmol/L |
|
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Notes: Cholestanol is 5α-cholestan-3β-ol. CTX is Cerebrotendenous Xanthomatosis. Lanosterol may be elevated in Antley-Bixler Syndrome-1. Cholesterol biosynthesis disorders present with multiple congenital anomalies (most) or neurological symptoms with xanthomas (CTX). Sitosterol is elevated in Sitosterolemia, which presents with xanthomas and accelerated atherosclerosis. |
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Test Location
Laboratory Reference Centre, 237 Barton Street E, Hamilton ON L8L 2X2
Test Version
5-Jan-2023
Interface / Setup
HL7 Interface Codes
| Order Code | Result Codes | Units |
|---|---|---|
| STEROL SP | 63852STEROL PROFILE |
Test Version
5-Jan-2023