7-Dehydrocholesterol, (Plasma/Serum)

Diagnostic Use

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.

Department

Specialist Biochemistry

Delphic Registration Code

DHC7

Laboratory Handling

Phlebotomy

Samples need to be protected from light.

Separating

Samples need to be protected from light and plasma/serum frozen

Synonyms

7-dehydroxycholesterol
Campesterol
Dehydrocholesterol-7
DHC
Neutral sterols
Plant Sterols
Sitosterol
Smith Lemli Opitz

Turnaround Time

8 weeks

Test Code

5817

Specimen Type

• Serum
• Plasma
• Amniotic Fluid

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred if West Coast

• Lithium Heparin - Gel (Light Green Cap)

Acceptable

• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin - Gel (Light Green Cap)

Preferred Sample Volume (ml)

1.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin - Gel (Light Green Cap)

Preferred Sample Volume (ml)

0.5

Additional Specimen Information

For amniotic fluid 7-DHC, send cell free amniotic fluid protected from light. Minimum 1.0 mL

Aliquot Instructions

Sample Type

• Serum
• Plasma

Minimum Volume (ml)

0.2

Transport to Lab

Frozen

Additional Referral/Aliquot Information

Minimum 200 uL plasma or serum. Preferable 500 uL plasma or serum protected from light. 1mL amniotic fluid protected from light.

Reference Intervals

The reference interval will be provided with the result.

Test Method

GCFID

Non-Funded Test Cost

$547.91 (Exclusive of GST)

Billing Code

5817

Referred to SA pathology Adelaide Women's and Children's Hospital.

Contact Information

Enquiry Form

Contact Information

Enquiry Form