Hydrops Panel – Enzyme Analysis

Disease names Sialidosis
GM1 gangliosidosis
Galactosialidosis
Gaucher disease
Sly syndrome (MPS VII)
Enzyme Names α-neuraminidase-sialidase (sialidosis)
β-galactosidase (GM1 gangliosidosis, galactosialidosis)
β-glucosidase (Gaucher disease)
β-glucuronidase (Sly syndrome, MPS VII)
Indications Non-immune hydrops fetalis can result from numerous etiologies. Inborn errors of metabolism, specifically some lysosomal storage disorders, have been shown to be a cause of some cases of non-immune hydrops.
Methodology Measurement of the four lysosomal enzymes will employ 4-methylumbelliferyl substrate.
Associated Tests Each of these enzyme assays can also be ordered separately. Some of these enzyme are also part of the lysosomal enzyme panel.
Specimen Requirements Fibroblasts are required for analysis. Fresh tissue or cultured can be accepted. If cultured fibroblasts are sent, please send two T25 flasks and a control flask. No prenatal samples (amniotic fluid or CVS) will be accepted for this panel.
Transport Fresh tissue for culture should be sent by courier or overnight delivery.
Turnaround time Turnaround time is approximately 4 weeks. Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657(x4)
Cost $800
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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