Clinical background:
For investigation of congenital disorders of glycosylation, a range of disorders with multi-system involvementAbnormal IGF patterns are followed up with enzyme analysis and genetic studies.
Specimen container paediatric:
SST serum
Specimen container adult:
SST serum
Minimum volume paediatric:
200 µL
Minimum volume adult:
200 µL
Special requirements:
The test is not valid in infants under 3 weeks of age or if the patient has had a transfusion within 3 weeks.
Sample stability:
Freeze sample
Transport requirements:
First class post
Reference ranges:
Qualitative assay
Factors affecting result:
EDTA may interfere with the assay.
Other Info:
Referral Laboratory: Neuroimmunology & CSF Lab, The National Hospital for Neurology & Neurosurgery, Queens Square, LONDON WC1N 3BG