Sterols Analysis

BC6461

Synonym(s):
Specimen Container
Lithium heparin tube
(To be obtained from DPLM Client Services, after office hour call extension 1352)
Specimen Requirement
Whole Blood
2 mL
Specimen Storage/Transport
Keep away from direct sunlight. Send specimen straight to lab.
Please send with a separate ice pack.
Orderable as Urgent? No
Turn Around Time
2 - 3 weeks
Reference Value(s)

Cholestanol
Normal: 3-16 umol/L
Affected Range: 33 - 386 umol/L

Cholesterol
Normal: 600 – 6500 umol/L (all ages)

7-Dehydrocholesterol
Normal: Less than 1.5 umol/L
Affected Range: 5.2 - 1221 umol/L

Testing Laboratory Location KKH
Laboratory Biochemical Genetics Lab
Contact Number 6394 8728
Day and Time Performed
Mon – Fri: 0900 hrs – 1800 hrs
Orderable on CPOE? Yes
Downtime Form

Biochemical Genetics Lab

Additional Information
Useful For​
  • Measuring plasma levels of Cholestanol, Cholesterol and 7-Dehydrocholesterol.
  • The level of cholestanol is diagnostic for the disorder Cerebrotendinous xanthomatosis. The build up of cholestanol in tendon and neural tissues causes ataxia, dementia and eventually death from the fourth decade. It is often associated with high plasma cholesterol.
  • Abnormal levels of 7-Dehydrocholesterol is diagnostic of the Smith-Lemi-Opitz syndrome.
​Clinical Indication​Microcephaly, dysmorphic features, variable skeletal dysplasies, growth and mental retardation as well as heart and kidney defects. The most consistent clinical feature is 2nd and 3rd toes syndactyly.
Interpretation​A detailed interpretation requires the overview of results and correlation to available clinical information.
 

For URGENT analysis, contact the Biochemical Genetics laboratory at 6394 8728 or the Lead Scientist at 8388 8741 to discuss.
 
If sent after office hours, plasma will be separated and stored in Clinical Laboratory -20°C freezer.

Change History Notes

  • 02 Jul 2025 03:00 PM

    Update day/time performed.

  • 18 Jun 2025 12:48 PM

    Update speciment requirement volume

  • 09 Feb 2023 05:10 PM

    Update specimen container to be obtained from DPLM Client Services

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Last Updated - 02 Jul 2025