Sterols Analysis | KK Women's and Children's Hospital

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?

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