Neurological Enzyme Panel

Turnaround Time

2 weeks

CPT Code(s)

82657 x3

Cost

$600

Enzymes

• Fabry Disease
• Gaucher Disease
• GM1 gangliosidosis
• Krabbe Disease also Galactocerebrosidase Deficiency
• Metachromatic Leukodystrophy (MLD)
• Neuronal Ceroid Lipofuscinosis Type 1 (CLN1)
• Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
• Niemann-Pick disease A/B
• Tay-Sachs Disease
• Sandhoff 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.

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

Enzyme activity can be measured in whole blood. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

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.