Lysosomal Storage Disease : Enzyme Panel

Test Information

This panel includes quantification of the activity of 13 enzymes.

Turnaround Time

3 weeks

CPT Code(s)

82657 x5

Cost

$1,000


Enzymes

Alpha-mannosidase
Aspartylglucosaminidase
Beta-mannosidase
Alpha-galactosidase
Alpha-fucosidase
Beta-glucosidase
Beta-galactosidase
Alpha-iduronidase
Galactocerebrosidase
Arylsulfatase A
Acid sphingomyelinase
N-acetyl-alpha-galactosaminidase
Beta-hexosaminidase

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. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.

Specimen Requirements

The lysosomal enzyme panel requires 7-10 ml of whole blood collected in a sodium heparin (green-top) tube. Please note that Krabbe and Niemann Pick A/B enzyme analysis are performed in dried blood spots that are prepared in our lab from the whole blood sample.

Transport Instructions

Whole blood should be sent over overnight at ambient temperature. Do not freeze whole blood. Samples for enzyme analysis must arrive to the lab within 24 hours of blood draw.

Cultured fibroblasts can be sent overnight at room 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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