Acid sphingomyelinase, alpha-galactosidase, alpha-glucosidase, beta-glucosidase, Galactocerebrosidase, Tripeptidyl-peptidase 1, alpha-mannosidase, Aspartylglucosaminidase, beta-mannosidase, alpha-fucosidase, beta-galactosidase, alpha-N-acetylgalactosaminidase
Lysosomal Storage Disease Enzyme Panel (DBS)
Lysosomal Storage Disease Enzyme Panel (DBS)
This panel quantitatively measures the activity of 12 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, Fabry disease, Pompe disease (glycogen storage disease II), Gaucher disease, Krabbe disease, Neuronal ceroid lipofuscinosis type II (CLN2), Alpha-mannosidosis, Aspartylglucosaminuria, Beta-mannosidosis, Fucosidosis, GM1 gangliosidosis (Morquio B), Schindler disease (Kanzaki 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 and liquid chromatography-tandem mass spectrometry (LC-MS/MS).
Specimen Requirements
Dried blood spots (DBS) are the accepted sample type for this test. Approximately 75 uL of blood should be applied to each of the five circles on filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
Transport Instructions
Ship DBS card 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