Eurofins Biomnis code

7DCHO

Synonyms

• SLO syndrome
• Smith-Lemli-Opitz - syndrome
• Smith-Lemli-Opitz syndrome

Specialty

Biochemistry

Clinical 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.

Preanalytics

• 1 mL :
• Serum or amniotic fluid : FROZEN, to be stored away from light
•   FROZEN
• Freezing within 4 hours

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Enclose the specific clinical information form (R26-INTGB : Metabolic Biochemistry)
The samples must reach the laboratory from Monday to Wednesday only

Documents to download

• Specific clinical information form (R26-INTGB)

Methodology

Gas Phase Chromatography

Turnaround time

3 weeks

Caption