Lysosomal Storage Disease Enzyme Panel (DBS)

This panel includes quantification of the activity of 12 enzymes and is intended for patients with a diagnosis or clinical suspicion of a Lysosomal Storage Disease (LSD). Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.

Each of these enzymes can be ordered individually.

Turnaround Time

3 weeks

CPT Code(s)

82657 x4

Cost

$800

Enzymes

• Alpha-mannosidosis
• Aspartylglucosaminuria
• Beta-mannosidosis
• Fabry Disease
• Fucosidosis
• Gaucher Disease
• Morquio syndrome B (MPS IVB)
• Krabbe Disease also Galactocerebrosidase Deficiency
• Niemann-Pick disease A/B
• Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
• Pompe disease also Glycogen storage disease type II
• Schindler Disease also Kanzaki Disease

Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.

Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing.

• Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
• Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
• Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
• Fucosidosis: Alpha-fucosidase Enzyme Analysis
• Gaucher Disease: Beta-glucosidase Enzyme Analysis
• Krabbe Disease: Galactocerebrosidase Enzyme Analysis
• Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis
• Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis
• Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis
• Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis
• Fabry Disease: Alpha-galactosidase Enzyme Analysis
• Lysosomal Storage Disease Enzyme Panel
• Lysosomal Storage Disease NGS Panel
• Oligosaccharide Urine Analysis

To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.

When sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent at ambient temperature.