Background:
Mucopolysaccharides (also known as glycosaminoglycans (GAGs)) are excreted in excessive amount and in unusual patterns in several lysosomal storage disorders involving mucopolysaccharide metabolism such as Hurler, Hunter, Sanfillipo, Morquio, or Maroteaux-Lamy syndromes. Individuals with these disorders may present with skeletal abnormalities, short stature, coarse facial features, hirsutism, corneal clouding, deafness, cardiac valve disease, hepatosplenomegaly, umbilical and inguinal hernias, developmental regression, and behavioral disturbances. This assay combines quantitative measurement of urinary mucopolysaccharide excretion and qualitative analysis of the types of mucopolysaccharides excreted to determine the most likely lysosomal storage disease in a patient.
Methodology:
- Colorimetric – quantitative urine mucopolysaccharides
- Gel electrophoresis – qualitative analysis of urine mucopolysaccharides including chondroitin sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate.
- Creatinine is run concurrently and used to normalize results.
Specimen Requirements:
Urine: 3-5 mL, clean catch spot specimen or aliquot from a timed urine specimen
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Every Two Weeks
Turn Around Time:
5-14 days
Shipment Sensitivity Requirements:
- Freeze specimen, package in styrofoam shipper with ample dry ice to keep frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services at (855) 535-1522 for shipping kits and instructions.
References:
Additional Info: