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7-Dehydrocholesterol


Plasma
Test performed by: LabPLUS Biochemical Genetics


Specimen Collection

Note: Request for plant sterol is done in conjunction with 7-DCHO registration.

Collect a minimum of 1 mL blood into a heparin (green) or EDTA (lavender) tube. Wrap in aluminium foil and deliver to Lab at ambient temperature.

ALSS specimen staff   

Separate off 0.2 mL heparin/EDTA plasma immediately and wrap it in tinfoil and freeze at -20 0 C.   

For external laboratories:

Lab Note:  Separate off 0.2 mL heparin/EDTA plasma immediately and wrap it in tinfoil. Send to LabPlus frozen ( -20 0 C).


EDTA4 mL Adult EDTA Blood
Heparin4 mL Heparin Blood
Reference Intervals

The reference interval will be provided with the result.



Turnaround Time: 8 weeks, 5 days
Diagnostic Use and Interpretation

This test is used for diagnosis of Smith-Lemli-Opitz syndrome. SLO is a metabolic disorder of cholesterol synthesis. Patients typically have developmental delay, 2-3 toe syndactyly, hypotonia and a characteristic facial appearance. Males may have ambiguous genitalia.


Contact Information

For further information contact laboratory: ext 22016 or via Lablink.

or, Dr Callum Wilson, Metabolic Physician:  Ph  021 555 392

or, Dr Emma Glamuzina, Metabolic Physician:  Ph 021 403 617



Last updated at 13:52:49 18/02/2019