Accessibility links
|
|
7 Dehydrocholesterol
(a.k.a Provitamin D3)
Test Code: 7DC
Tube type: Lithium Heparin
Other acceptable tube types
SST (yellow top)
Special instructions
Protect from light
Get to lab ASAP
Sent away
to Southmead Hospital, Bristol
Contact Laboratory before requesting
Reference range
<2.5
Units
µmol/L
Turnaround Time
28
days
Department: Biochemistry
Clinical Application
7-dehydrocholesterol is used in the diagnosis of Smith-Lemli-Opitz syndrome. Blood and tissue of infants with Smith- Lemli-Opitz (SLO) syndrome contain reduced amounts of cholesterol and greatly increased concentrations of 7-dehydrocholesterol and of its isomer 8-dehydrocholesterol.
Features of this disease can include learning and behavioural problems. Physical abnormalities can be of varying severity; patients may have distinctive facial features, microcephaly, growth retardation, hypotonia, limb abnormalities, feeding difficulties and malformations of the heart, lungs, kidneys, gastrointestinal tract and genitalia.
Webpage updated: June 2024
