Sorted By Test Name - Mayo Medical Laboratories

LYZMS
60719
between 1.0 nmol/mL blood/hour and 3.0 nmol/mL blood/hour. Acid alpha-glucosidase (GAA): Normal
results (> or =4.0 nmol/mL blood/hour) in properly submitted specimens are not consistent with Pompe
disease. Affected patients typically have GAA activities or =4.0 nmol/mL/hour
GALACTOCEREBROSIDASE
Normal > or =0.5 nmol/mL/hour
ALPHA-GALACTOSIDASE A
Males: normal > or =2.0 nmol/mL/hour
Females: normal > or =4.2 nmol/mL/hour
Clinical References: 1. DeJesus VR, Zhou H, Vogt RF, Hannon WH: Changes in solvent
composition in tandem mass spectrometry multiplex assay for lysosomal storage disorders do not affect
assay results. Clin Chem 2009;55(3):596-598 2. Li Y, Scott CR, Chamoles NA, et al: Direct multiplex
assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem
2004;50(10):1785-1796
Lysozyme (LYZ) Gene, Full Gene Analysis
Clinical Information: The systemic amyloidoses are a number of disorders of varying etiology
characterized by extracellular protein deposition. The most common form is an acquired amyloidosis
secondary to multiple myeloma or monoclonal gammopathy of unknown significance (MGUS) in which
the amyloid is composed of immunoglobulin light chains. In addition to light chain amyloidosis, there are
a number of acquired amyloidoses caused by the misfolding and precipitation of a wide variety of
proteins. There are also hereditary forms of amyloidosis. The hereditary amyloidoses comprise a group of
autosomal dominant, late-onset diseases that show variable penetrance. A number of genes have been
associated with hereditary forms of amyloidosis, including those that encode transthyretin, apolipoprotein
AI, apolipoprotein AII, fibrinogen alpha chain, gelsolin, cystatin C and lysozyme. Apolipoprotein AI,
apolipoprotein AII, lysozyme, and fibrinogen amyloidosis present as non-neuropathic systemic
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