Hydrops : Enzyme Panel

Test Information

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

alpha-neuraminidase (sialidase)
beta-galactosidase
beta-glucosidase
beta-glucuronidase

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

4-methylumbelliferyl substrate

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 Instructions

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

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Biochemical Testing, Enzyme Panel, Enzyme Panels
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