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: 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: leedsth-tr.pathologycustomerservice@nhs.net. |
| 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. |
| Sample REQ | Blood |
| Ref. Range Notes | < 2 µmol/L |
| Units | µmol/L |
| Telepath | 7DCH1R & SA1R |
