Lysosomal Storage Disease Enzyme Panel (DBS)

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.

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.