Biochemical Genetics Laboratory
INDICATIONS FOR TESTING:
Mucopolysaccharide analysis of
urine is indicated in patients presenting with short stature, coarse facial
features, mental retardation, organomegaly, dystosis multiplex, corneal clouding
or skeletal abnormalities. This test is meant to help the physician narrow the
list of possible enzymes to measure.
Mucopolysaccharide screening consists of two
parts. The first part is an Alcian Blue spot test, which semi-quantitatively
estimates the amount of total mucopolysaccharides present. The second part is a
thin-layer chromatographic analysis, which distinguishes which
mucopolysaccharides are being excreted. Mucopolysaccharides are isolated and
purified prior to chromatography.
Mucopolysaccharide analysis is
completed within a time of 3 working days following specimen receipt. Samples
- Preferred volume: 5.0 mL
- Absolute minimum: 1.2 mL
Mucopolysaccharide excretion varies
greatly with age, time of collection and progression of the disease. For these
reasons, a 24-hour collection is strongly recommended on patients who are at
least one year of age.
Do not use preservatives (especially strong acids).
Shipping and Handling:
- Optimal: Ship
frozen with dry ice in an insulated container
Ship thawed with cool pack in an insulated container
- Use overnight delivery if available.
- Mucopolysaccharide Screen: 83864
FOR MORE INFORMATION, PLEASE CONTACT: