Dehydrocholesterol (7-dehydrocholesterol, 7-DHC)
Indication: to aid the diagnosis of Smith-Lemli-Opitz syndrome.
|Tube||06 (HP) - Heparin Gel|
|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: 3-6 weeks|
|Send to||Blood Sciences LGI
(Test referred to: Sheffield Children's Hospital)
|Contact||For further details please contact Leeds Pathology customer services: firstname.lastname@example.org.|
|Advice||Full information on all referred tests can be found on the referred tests information database, EQMS reference BSF2REC17003.|
|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.
Minimum volume: 1 mL plasma.
|Ref. Range Notes||< 2 µmol/L|
|Telepath||7DCH1R & SA1R|