Test Details

• Discipline:

  Biochemistry

  Biochemistry

• Specimen Container Adult:

  Lithium heparin plasma

  Lithium heparin plasma

• Specimen Container Paediatric:

  Lithium heparin plasma

  Lithium heparin plasma

• Minimum Volume Adult:

  2 mL blood, 1 mL plasma

  2 mL blood, 1 mL plasma

• Minimum Volume Paediatric:

  1 mL blood, 0.5 mL plasma

  1 mL blood, 0.5 mL plasma

• Special Requirement:

  Protect from light. 

  Blood sample should be centrifuged on receipt in the laboratory and the plasma separated and frozen.

  If urgent sample analysis is required, please contact the laboratory to dis...

  Protect from light. 

  Blood sample should be centrifuged on receipt in the laboratory and the plasma separated and frozen.

  If urgent sample analysis is required, please contact the laboratory to discuss.

   

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• Transport Requirements:

  NUTH users: send sample to the laboratory at ambient temperature, protected from light.

  External hospitals: send sample to the RVI frozen and protected from light.

  NUTH users: send sample to the laboratory at ambient temperature, protected from light.

  External hospitals: send sample to the RVI frozen and protected from light.

• Interpretation:

  Patients with Smith-Lemli-Opitz syndrome typically have levels of 7-dehydrocholesterol over 100-fold greater than the reference range.  Significantly increased lathosterol or desmosterol is consist...

  Patients with Smith-Lemli-Opitz syndrome typically have levels of 7-dehydrocholesterol over 100-fold greater than the reference range.  Significantly increased lathosterol or desmosterol is consistent with lathosterolosis or desmosterolosis respectively.

  Measurement of the sterol/cholesterol ratio can improve the diagnostic specificity of the test.

  Exposure to light may cause degradation of sterols.

  A diagnosis of SLOS, desmosterolosis or lathosterolosis should be confirmed by gene mutation analysis.

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• Reference Ranges:

   

  Reference Ranges for Sterols in Plasma and Serum
  Sterol	Adults (18 years and over)	Paediatrics (under 18 yrs)	Units
  Cholesterol	2500 – 7200	1900 – 4900	µmol/L
  7-dehydr...

   

  Reference Ranges for Sterols in Plasma and Serum
  Sterol	Adults (18 years and over)	Paediatrics (under 18 yrs)	Units
  Cholesterol	2500 – 7200	1900 – 4900	µmol/L
  7-dehydrocholesterol	Less than 2.5	Less than 1.0	µmol/L
  Lathosterol	Less than 12.3	Less than 5.7	µmol/L
  Desmosterol	Less than 4.2	Less than 4.3	µmol/L

   

   

  Reference Ranges for Sterol/Cholesterol ratios
  Sterol ratio	Adults  (18 years and over)	Paediatrics (under 18 yrs)	Units
  7-dehydrocholesterol/ cholesterol	Less than 0.40	Less than 0.40	µmol/mmol
  Lathosterol/cholesterol	0.25 – 2.65	0.24 – 1.92	µmol/mmol
  Desmosterol/cholesterol	0.14 – 0.75	0.22 – 1.42	µmol/mmol

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• Other Info:

  Serum or EDTA plasma are also acceptable, but must be protected from light.

  Serum or EDTA plasma are also acceptable, but must be protected from light.

• Routine Contact Name:

  Duty Biochemist

• Routine Telephone:

  Freeman: 0191 244 8889

  RVI: 0191 282 9719

  Freeman: 0191 244 8889

  RVI: 0191 282 9719

• Routine Email:

  nuth.dutybiochemist@nhs.net

• Specialist Test:

  Yes

  Yes

• Specialist Contact Name:

  Metabolic Clinical Scientist

  Metabolic Clinical Scientist

• Specialist Telephone:

  0191 282 9685 (Consultant Clinical Scientist)

  0191 282 0334 (Metabolic Laboratory)

  0191 282 9685 (Consultant Clinical Scientist)

  0191 282 0334 (Metabolic Laboratory)

• Specialist Email:

  tnu-tr.newcastlemetaboliclab@nhs.net

  tnu-tr.newcastlemetaboliclab@nhs.net