Lysosomal Storage Disease : Enzyme Panel (DBS)

Test Information

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-mannosidase
Aspartyglucosaminidase
Beta-mannosidase
Alpha-galactosidase
Alpha-fucosidase
Beta-glucosidase
Beta-galactosidase
Galactocerebrosidase
Acid sphingomyelinase
Alpha-1,4-glucosidase
N-acetyl-alpha-galactosaminidase
Tripeptidyl-peptidase 1

Clinical Information

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.

Indications

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

Specimen Requirements

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.

Transport 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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Biochemical Testing, Enzyme Panel, Enzyme Panels
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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