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The mucopolysaccharides are a group of inherited lysosomal
storage disorders of connective tissue each with distinctive
phenotypes and a progressive course due to severe deficiency
of an enzyme which usually catalyzes a step in the degradation
of glycosaminoglycans. In general, excessive quantities of glycosaminoglycans
are excreted in urine which can be analyzed. Specific enzyme
analyses must be run for a definitive diagnosis.
Mucopolysaccharides analysis is usually performed on urine. A
mucopolysaccharide storage disorder should be considered in patients
with:
- coarse facies
- hepatosplenomegaly
- developmental regression
- corneal clouding
- stiff joints
- dystosis multiplex
Specimen requirements: At least 10 ml of a random catch sample
of urine is needed for mucopolysaccharides analysis.
Transport: Urine samples must be frozen, preferably on
dry ice. Samples must be sent frozen by overnight delivery services
or courier.
Standard of analysis: Qualitative analysis of mucopolysaccharides
will be made by electophoresis with positive and negative controls
run concurrently.
Time required: Mucopolysaccharides analysis will usually
be completed within one week.
Special requests: Any type of special request must be
made directly with the laboratory at the time the specimen is
submitted.
Report: A written report will be sent, and when abnormalities
exist, a report will be made by telephone. Results may be sent
by FAX or email when requested.
CPT Code: 84999
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