The Leeds Teaching Hospitals NHS Trust

Dehydrocholesterol (7-dehydrocholesterol, 7-DHC)

Dehydrocholesterol (7-dehydrocholesterol, 7-DHC)

Indication: to aid the diagnosis of Smith-Lemli-Opitz syndrome.

Tube 06 (HP) - Heparin Gel
ID Tests&Tubes0146
Additional Information Smith-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.
Turn Around Turnaround time stated by Shefield Children's Hospital: 4 weeks
Send to Blood Sciences LGI
(Test referred to: Sheffield Children's Hospital)
Contact For further details please contact Leeds Pathology customer services: leedsth-tr.pathologycustomerservice@nhs.net.
Advice Full Referred Test details logged internally on the referred test database [BSF2REC17003]http://leedspath.myeqms.com/Administrator/LoadDocADM.asp?ID=82998&Ext=True&CCID=1
Collection Con PROTECT FROM LIGHT. Samples should be received in the lab within 30 min of collection. Instructions to lab: Centrifuge sample, separate and freeze plasma. When booking in, please note whether sample was protected from light in specimen comment.
Sample REQ Blood
Ref. Range Notes < 2 µmol/L
Units µmol/L
Telepath 7DCH1R & SA1R