Lysosomal Storage Disorders: Urine Screening
2460 Mountain Industrial Boulevard | Tucker, Georgia 30084 Phone: 470-378-2200 or 855-831-7447 | Fax: 470-378-2250 eglgenetics.com Lysosomal Storage Disorders: Urine Screening Test Code: BLSDS Turnaround time: 2 weeks (GAGs performed Fri 10 am / Oligos performed Fri 3 pm) CPT Codes: 82542 x1, 82570 x1, 83864 x1, 84275 x1, 84375 x1, 84377 x1 Condition Description Notice: This test has been discontinued EGL no longer accepts samples for this test. For questions, please call: 470-378-2200 In glycoprotein storage diseases (GSDs), certain subtypes of congenital disorders of glycosylation (CDGs), and in the mucolipidoses, there is an accumulation of oligosaccharides, free glycans, glycoamino acids, glycolipid and glycopeptide in the urine. Glycoprotein storage diseases are genetic conditions caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to process, break down and recycle materials in cells. In individuals with GSD and related diseases, the missing or insufficient enzyme prevents the proper processing and recycling process. This results in the storage of materials, called oligosaccharides or free glycans and glycoamino acids in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system, immune system and central nervous system. While the disease may or may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of materials. The symptoms of these diseases may vary based on syndrome type, and in some cases may resemble a mucopolysaccharidosis. This urinary oligosaccharide and glycan screening uses mass spectrometry (MS), which provides a better sensitivity and specificity than traditional TLC methods.
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