Neurological 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 whole blood. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

Transport Instructions

Enzyme samples must arrive at the laboratory the next day. 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
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Mother and son

A Rare Beauty

The lobby of the JC Self Research Institute at GGC was transformed into a garden – of sorts. The art exhibit titled ‘Rare Roses’ consisted of 12 paintings that depict real roses with genetic variations. The series was created by Nicole Shannon, an artist from Greenville. Nicole was inspired by her son, who has a rare genetic disorder, and other individuals with genetic differences. Quinn, now 4, was born with a myriad of health issues and ...

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