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