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Laboratory: Clinical Biochemistry  (METABOLIC)
Test Name:
7-DEHYDROCHOLESTEROL (7-DHC) - (Amf)
Test Code: MIS8
Clinical Information:
Alternate Name(s):
7-DHC
Smith-Lemli-Opitz Syndrome
SLOS
7-Dehydrocholesterol Reductase Deficiency
Description: 7-DHC is no longer orderable separately and is now included in the Sterol Profile for amniotic fluid.
Test Indications: This test is for the prenatal investigation of Smith-Lemli-Opitz Syndrome in amniotic fluid.
Test Approval Requirements:  Biochemical Geneticist Consult Required
Recommendations: Gestational age must be 14 weeks or greater.
Collection Devices:
Specimen Required:
Amniotic Fluid: 2.0 mL

Adult Volume: 2 mL (min 600 uL)
Special Processing: 
Centrifuge immediately and store supernatant in a dark transfer vial or wrap in foil. Protect specimen from light.
- State gestational age on the requisition.
- Store and ship frozen
Specimen Stability: 
Frozen: 1 Month
Referral:

Shipping & Storage: Store & ship frozen
Referred Out Location: 
Laboratoire de Biochimie Génétique
CIUSS de l’Estrie-CHUS
Hopital Fleurimont
Sherbrooke, Québec
Requisition:
Reference Values:
Method of Analysis: Gas chromatography mass spectrometry (GC-MS)
Availability:
Within 2 Weeks
See Also:
More Information: