Storage Disease Screening Panel - urine
|Test description||This panel provides a comprehensive screening for lysosomal storage diseases. Many of these storage disorders have overlapping features or may present with similar phenotypes in young children. These tests are not diagnostic but may help rule out a storage disorder or narrow down the list of possible diagnoses.|
|Indications||A storage disorder may be considered in children with:
|Associated Tests||This panel includes the mucopolysaccharides electrophoresis, oligosaccharides, and siaclic acid. Each of these tests may also be ordered separately.
Enzyme analysis is available for a number of lysosomal storage diseases through the Biochemical Diagnostic Lab.
|Specimen Requirements||This panel requires a urine specimen. The urine should be at least 10 ml of random catch.|
|Transport||The urine sample must be frozen, preferably on dry ice. If the sample can be delivered the same day, it may be sent cold or at room temperature. Samples must be sent frozen by overnight delivery services or courier.|
|Turnaround time||21 days for the completion of all tests.
Separate reports will be generated and sent out as each test is completed
|CPT Codes||MPS electrophoresis: 83864
Sialic acid: 84275
|Cost||$525 for panel|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.