Hydrops Enzyme Panel

This panel includes quantification of the activity of 4 enzymes.

Turnaround Time

Turnaround time is approximately 4 weeks. Cell culture can take 1-4 weeks and may lengthen turnaround time.

CPT Code(s)

82657 x4

Cost

$800

Enzymes

• Galactosialidosis
• Gaucher Disease
• Sly Syndrome (MPS VII)
• Sialidosis also Mucolipidosis type I (ML I)

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.

4-methylumbelliferyl substrate

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.

Fresh tissue for culture should be sent by courier or overnight delivery.