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 Sheffield Children’s Hospital: 3 to 6 weeks.
Send to
Blood Sciences LGI
(Test referred to: Sheffield Children’s Hospital).
Contact
For further details please contact Leeds Pathology customer services: [email protected].
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