7-dehydrocholesterol (7-DHC); 8-dehydrocholesterol (8-DHC); cholestanol; desmosterol; lanosterol; lathosterol; sitosterol
Back to Test Catalogue
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 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 |
|
||||||||||||||||||||||||||
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. |
||||||||||||||||||||||||||||
Test Version
5-Jan-2023
Interface / Setup
HL7 Interface Codes
| Order Code | Result Codes | Units |
|---|---|---|
| STEROL SP | 63852STEROL PROFILE |
Test Version
5-Jan-2023