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HomeServicesTest guide7-Dehydrocholesterol
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7-Dehydrocholesterol Refered Test

Other tests

Biomnis code

7DCHO

Synonyms

  • Smith-Lemli-Opitz - syndrome
  • SLO 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.

Preanalytical

  • 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

Methodology

Gas Phase Chromatography

Turn around Time

3 weeks


Pathologist(s) in charge
Refered Test
Specialty
Biochemistry
Contact(s)
Dr Gilles PANTEIX
Dr Estelle BUGNI
Phone(s)
+334 72 80 10 41
+334 72 80 23 47

Caption

Refered TestThe pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.

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