Preferred Sample Type
Suitable Specimen Types
- Serum
- Li Hep Plasma
Specimen Transport
First Class Post to reference laboratory
Sample Processing in Laboratory
No special requirements for transporting sample to the laboratory
Sample Preparation
Lithium heparin plasma
Turnaround Time
3 weeksSample Stability
store frozen prior to shipment to referral laboratory
7-Dehydrocholesterol
General Information
7-dehydrocholesterol is a precursor of cholesterol biosynthesis. Elevated levels of 7-dehydrocholesterol and low levels of cholesterol are found in patients with Smith Lemli Opitz (SLO) syndrome. This is an autosomal recessive disorder characterised by dysmorphic features with abnormalities of limbs and genitalia. The primary defect in SLO is presumed to be due to a deficiency of delta-7-dehydrocholesterol reductase. Measurement of 7-dehydrocholesterol is particularly important in patients suspected of having SLO when cholesterol levels are low-normal, as high levels of 7-dehydrocholesterol may interfere with cholesterol assays.
Patient Preparation
None
Notes
None
Reference Range
Provided by Reference Laboratory
Specifications
- EQA Scheme?: Yes
-
EQA Status:
NULL