Biochemistry

Preferred Sample Type

7-Dehydrocholesterol

Suitable Specimen Types

Li Hep Plasma

7-Dehydrocholesterol

Specimen Volume

2 mL blood

Specimen Transport

First Class Post to reference laboratory

Sample Preparation

Lithium heparin plasma

Turnaround Time

3 weeks

Sample Processing In Laboratory

No special requirements for transporting sample to the laboratory

Sample Stability

store frozen prior to shipment to referral laboratory

General Information

7-dehydrocholesterol is a precursor of cholesterol biosynthesis. Elevated levels of 7-dehydrocholesterol and low levels of cholesterol are found in patients with Smith Lemli Opitz (SLO) syndrome. This is an autosomal recessive disorder characterised by dysmorphic features with abnormalities of limbs and genitalia. The primary defect in SLO is presumed to be due to a deficiency of delta-7-dehydrocholesterol reductase. Measurement of 7-dehydrocholesterol is particularly important in patients suspected of having SLO when cholesterol levels are low-normal, as high levels of 7-dehydrocholesterol may interfere with cholesterol assays.

Patient Preparation

None

Notes

None

Reference Range

Provided by Reference Laboratory

Specifications

  • EQAS Scheme: Yes

Link to Further Information

http://83.138.172.49/departments/clinicalchemistry/IMD_Handbook.pdf www.metbio.net

Related Tests

Cholesterol

Creation Date

Monday, 08 August 2011

Modification Date

Sunday, 18 February 2018

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Protection of Personal Information – Clinical Laboratory Services comply with the Trust Data Protection Policy and have procedures in place to allow the Directorate and it’s employees to comply with the Data Protection Act 1998 and associated best practice and guidance.

University Hospitals Birmingham medical laboratories at Queen Elizabeth Hospital, Heartlands Hospital, Good Hope Hospital and Solihull Hospital are UKAS (United Kingdom Accreditation Service) accredited to the ISO 15189:2012 standard. For a list of accredited tests and other information please visit the UKAS website using the following link: https://www.ukas.com/find-an-organisation/

  • Molecular Pathology is a UKAS accredited medical laboratory No. 8759
  • Biochemistry is a UKAS accredited medical laboratory No. 8910
  • Haematology and Transfusion is a UKAS accredited medical laboratory No. 8784
  • Clinical Microbiology is a UKAS accredited medical laboratory No. 8760
  • Cellular Pathology is a UKAS accredited medical laboratory No. 10141
  • Musculoskeletal laboratory is a UKAS accredited medical laboratory No. 9897
  • Heartlands, Good Hope and Solihull Hospital pathology laboratories are a UKAS accredited medical laboratory No.8217.

Tests not appearing on the UKAS Schedule of Accreditation currently remain outside of our scope of accreditation. However, these tests have been validated to the same high standard as accredited tests and are performed by the same trained and competent staff.

For further test information, please visit the test database: http://qehbpathology.uk/test-database

For further information contact Louise Fallon, Quality Manager, 0121 371 5962