7-Dehydrocholesterol (Blood)

Referring Laboratory

LabPLUS SCP Biochemical Genetics

Testing Laboratory

SA Pathology Women's and Children's Hospital, Adelaide

Department

Chemical Pathology

Delphic Registration Code (Alpha Code)

BGA

Test Code (Numeric Code)

6290

Synonyms

7 Dehydrocholesterol, 7DHC, Plant sterol, sitosterol, Smith-Lemli-Opitz (SLO) syndrome, Sterol metabolism, Disorders of sterol biosynthesis, Neutral Sterols

Specimen Type

• Amniotic Fluid
• Plasma
• Serum

Specimen Requirements

Tube/Container Type:

Preferred

• SST II (Gold Cap)

Acceptable

• EDTA (Lavender Cap)
• Lithium Heparin PST- Gel (Light Green Cap)

Preferred Sample Volume (ml)

5

Minimum Sample Volume (ml)

1

Handle with urgency, must be protected from light - wrap in aluminium foil. Blood samples must be centrifuged, plasma separated and frozen as soon as possible following collection.

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

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.

Turnaround Time: 8 weeks, 5 days

Contact Information