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ID:397 7-Dehydrocholesterol
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DescriptionUsed in diagnosis of Smith-Lemli-Opitz syndrome.
IndicationDiagnosis of Smith-Lemli-Opitz syndrome.
Additional InfoSmith-Lemli-Opitz syndrome is an inherited disorder (autosomal recessive) with an incidence of 1 in 20-30,000 live births (Northern and European population). Caused by a deficiency of 7-dehydrocholesterol reductase which converts 7-dehydrocholesterol to cholesterol (final step of cholesterol biosynthesis). Symptoms include failure to thrive, delayed growth, cataracts, renal disease, mental retardation, photosensitivty, microcephaly, genital abnormalities, failure of masculinisation. Type I is mild, Type II is severe.
Concurrent Testsna
Dietary Requirements

Interpretation

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range NotesAbnormal 7-DHC >5umol/L. Normal 7-DHC <2umol/L
Unitsumol/L


IP Acute TAT- Contact Laboratory
IP Routine TAT4 weeks
GP Acute TAT- Contact Laboratory
GP Routine TAT6 weeks
Turnround CommentNA
Originally edited by : Robert Barski. Last edited on 05/09/2019 16:37:13. Published By RB on 05/09/2018 16:37:13.