7-Dehydrocholesterol Refered Test
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7DCHO
Synonyms
- SLO syndrome
- Smith-Lemli-Opitz - syndrome
- Smith-Lemli-Opitz syndrome
Clinic significance
An intermediate in the biosynthesis of cholesterol which is a precursor of vitamin D3. Recessive autosomal disease (Smith-Lemli-Opitz) is due to a mutation of the hydrocholesterol reductase gene 7. It is characterised by severe mental retardation, a high infant mortality rate and severe developmental retardation.
The assay can be conducted on foetuses, children or adults.
Prenalytics
- 1 mL
- Serum or amniotic fluid : FROZEN, to be stored away from light
- FROZEN
Further information
- The samples must reach the laboratory from Monday to Wednesday only
- Enclose the specific clinical information form (R26-INTGB : Metabolic Biochemistry)
- According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Documents to download
Methodology
Gas Phase Chromatography
Turnaround time
3 weeks
Pathologist(s) in charge
Refered Test
Specialty
Biochemistry
Contact(s)
Dr Gilles PANTEIX
E-mail(s)
Phone(s)
+334 72 80 10 41
Caption
The pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.