Mucopolysaccharidosis Screen

This should be the first diagnostic test performed for MPS disorders. Urine should be sent prior to or with samples for enzyme analysis. Enzyme analysis will normally only be performed when an abnormal mucopolysaccharide pattern has been identified in urine or there is family history of a specific disorder. Routinely all urine samples are also tested for oligosaccharide and sialic acid containing conjugates by thin layer chromatography (TLC).

Urinary oligosaccharide screen – Oligosaccharide TLC

Analysis of urinary oligosaccharides by TLC stained with orcinol and resorcinol for oligosaccharides and sialic acid containing conjugates. This test is not always easy to interpret but complements the lysosomal enzyme and urinary MPS screens and can be useful in detection of some oligosaccharide/glycoprotein disorders.

Test Required specimen & volume Special precautions Turnaround time Reference ranges Section
2-D electrophoresis of GAGs*
Mucopolysaccharidoses 		10ml fresh plain U, 10ml AF To reach the laboratory within 72 hours of sampling 3 working weeks Qualitative Lysosomal
Oligosaccharide screen 3ml plain U. Age of patient must be specified To reach the laboratory within 72 hours of sampling 3 working weeks Qualitative Lysosomal
Quantitative sialic acid
Sialic acid storage disease, Sialidosis, Galactosialidosis 		2 – 3ml plain U, CC. Age of patient must be specified To reach the laboratory within 72 hours of sampling 4 working weeks Age-matched controls quoted Lysosomal

* All samples must be accompanied by relevant clinical details. This is particularly imperative for urine amino acids, urine organic acids, urine mucopolysaccharides and all samples for prenatal diagnosis. Reports may be withheld where samples are received without clinical details as an accurate interpretation may not be possible without them.