Laboratory: | Clinical Biochemistry (METABOLIC) |
Test Name: |
7-DEHYDROCHOLESTEROL (7-DHC) - (Amf)
Test Code:
MIS8
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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: |
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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)
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Availability: |
Within 2 Weeks
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See Also: | |
More Information: |