alpha-mannosidase, Aspartylglucosaminidase, beta-mannosidase, alpha-fucosidase, beta-galactosidase, alpha-N-acetylgalactosaminidase
Oligosaccharidoses Enzyme Panel
Key Information
Lab:
TAT:
14 days
Price:
$600
CPT Code(s):
82657x3
Test Code:
BOSP, BOSD
Oligosaccharidoses Enzyme Panel
This panel quantitatively measures the activity of 6 enzymes (depending on the sample type) in patients with a diagnosis or clinical suspicion of an oligosaccharidosis lysosomal storage disease.
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 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
Specimen Requirements
Whole Blood: A minimum of 5 uL (preferably 7-10 mL) whole blood collected in a sodium heparin tube.
DBS: Approximately 75 mL 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
Whole Blood: Whole blood should be shipped at ambient temperature.
DBS: Ship DBS card at ambient temperature.
Associated Tests
- Alpha-mannosidosis Serum Oligosaccharide Analysis
- Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
- Alpha-mannosidosis: MAN2B1 Sequencing
- Aspartylglucosaminuria: AGA Sequencing
- Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
- Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
- Fucosidosis: Alpha-fucosidase Enzyme Analysis
- GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
- GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
- Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis
- Sialidosis: NEU1 Sequencing
- Sialidosis: Sialidase (Alpha-Neuraminidase) 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