Acid sphingomyelinase, Galactocerebrosidase, alpha-galactosidase, alpha-fucosidase, alpha-iduronidase, alpha-mannosidase, Arylsulfatase A, beta-galactosidase, beta-glucosidase, beta-mannosidase, Aspartylglucosaminidase, alpha-N-acetylgalactosaminidase, beta-hexosaminidase
Lysosomal Storage Disease Enzyme Panel
Lysosomal Storage Disease Enzyme Panel
This panel quantitatively measures the activity of 13 enzymes in patients with a diagnosis or clinical suspicion of a lysosomal storage disease. Confirming deficient enzyme activity is the gold standard for diagnosis and can also support the interpretation of variants. Because different lysosomal storage diseases can present with similar clinical features, measuring multiple enzyme activities may be necessary to identify the deficient enzyme in a given patient. Each enzyme can also be ordered individually.
Niemann-Pick disease, Krabbe disease, Fabry disease, Fucosidosis, Hurler syndrome (MPS I), Alpha-mannosidosis, Metachromatic leukodystrophy (MLD), GM1 gangliosidosis (Morquio B), Gaucher disease, Beta-mannosidosis, Aspartylglucosaminuria, Schindler disease (Kanzaki disease), Tay-Sachs disease/Sandhoff disease
Clinical Information
Lysosomal storage diseases are a broad group composed of a variety of sub-groups of diseases such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage diseases 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.
Technical Information
Enzyme activity is measured using 4-methylumbelliferyl (4-MU) substrate, liquid chromatography-tandem mass spectrometry (LC-MS/MS) (DBS), and p-Nitrocatechol sulfate substrate (spectrophotometry).
Specimen Requirements
The accepted sample type for this test is whole blood, and requires a minimum of 5 mL (preferably 7-10 mL) collected in a sodium heparin tube.
Transport Instructions
Whole Blood: Whole blood should be shipped at ambient temperature.
Associated Tests
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