beta-galactosidase, beta-glucosidase, beta-glucuronidase, Sialidase
Hydrops Enzyme Panel
Hydrops Enzyme Panel
This panel quantitatively measures the activity of 4 enzymes in patients with clinical evidence of non-immune hydrops of unknown etiology. Each enzyme can also be ordered individually.
Gaucher disease GM1 gangliosidosis (Morquio B), Sialidosis (Mucolipidosis type I), Sly syndrome (MPS VII)
Clinical Information
This panel includes quantification of the activity of 4 enzymes.This panel of four 4 enzymes includes alpha-neuraminidase-sialidase (sialidosis), beta-galactosidase (GM1 gangliosidosis, galactosialidosis), beta-glucosidase (Gaucher disease), and
beta-glucuronidase (Sly syndrome, MPS VII). This biochemical analysis is intended for patients with clinical evidence of Hydrops of unknown etiology, and each of these enzymes can be ordered individually.
Technical Information
Enzyme activity is measured using a 4-methylumbelliferyl (4-MU) substrate.
Specimen Requirements
Fibroblasts are the accepted sample type for this test. Tissue sample should be stored in sterile culture media; cultured fibroblasts should be sent in two T25 flasks. Do NOT place tissue in formalin or formaldehyde. Do not freeze tissue.
Transport Instructions
Ship the tissue sample or cultured fibroblasts at ambient temperature.
Associated Tests
- Chitotriosidase Enzyme Analysis
- 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
- Non-Immune Hydrops NGS Panel
- Sialidosis: NEU1 Sequencing
- Sialidosis: Sialidase (Alpha-Neuraminidase) Enzyme Analysis
- Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
- Sly Syndrome (MPS VII): GUSB Sequencing
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