Neurological (Sphingolipidoses) Enzyme Panel

Test Information

This panel of enzymes is intended for patients with neurological symptoms suggestive of a lysosomal storage disorder (LSD) and includes quantification of the activity of 9 enzymes. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.

Turnaround Time

2 weeks

CPT Code(s)

82657 x3

Cost

$600


Enzymes

Palmitoyl-protein thioesterase 1
Tripeptidyl peptidase 1
Alpha-galactosidase
Beta-galactosidase
Beta-glucosidase
Galactocerebrosidase
Arylsulfatase A
Acid sphingomyelinase
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.

Methodology

Assay utilizes 4-methylumbelliferyl substrate and LC-MS/MS

Specimen Requirements

Enzyme activity can be measured in leukocytes and cultured fibroblasts. For leukocytes, please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

Transport Instructions

Enzyme samples must arrive within 24 hours of blood draw. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.

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
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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