Acid sphingomyelinase, Galactocerebrosidase, Tripeptidyl-peptidase 1, alpha-galactosidase, beta-glucosidase, beta-galactosidase, beta-hexosaminidase, Arylsulfatase A, Palmitoyl-protein thioesterase 1
Neurological Enzyme Panel
Neurological Enzyme Panel
This panel quantitatively measures the activity of 9 enzymes for patients with neurological symptoms suggestive of a lysosomal storage disease (LSD).
Niemann-Pick disease A/B, Krabbe disease, Neuronal Ceroid Lipofuscinosis Type 1 (CLN1), Neuronal Ceroid Lipofuscinosis Type 2 (CLN2), Fabry disease, Gaucher disease, GM1 gangliosidosis (Morquio B), Tay-Sachs disease/Sandhoff disease, Metachromatic leukodystrophy (MLD)
Clinical Information
Lysosomal storage diseases are a broad group 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.
Technical Information
4-methylumbelliferyl (4-MU) substrate, Liquid chromatography-tandem mass spectrometry (LC-MS/MS) (DBS) and p-Nitrocatechol sulfate substrate (spectrophotometry)
Specimen Requirements
Whole Blood: A minimum of 5 mL (preferably 7-10 mL) whole blood collected in a sodium heparin tube.
Transport Instructions
Whole Blood: Whole blood should be shipped at ambient temperature.
Associated Tests
- Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
- Fabry Disease: Alpha-galactosidase Enzyme Analysis
- Fabry Disease: GLA Sequencing
- GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
- GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
- Gaucher Disease: Beta-glucosidase Enzyme Analysis
- Gaucher Disease: GBA Sequencing
- Krabbe Disease: GALC Sequencing
- Krabbe Disease: Galactocerebrosidase Enzyme Analysis
- Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis
- Metachromatic Leukodystrophy: ARSA Sequencing
- Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis
- Tay-Sachs Disease: HEXA Sequencing
- Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC