Hydrops Panel – Enzyme Analysis
| Disease names | Sialidosis GM1 gangliosidosis Galactosialidosis Gaucher disease Sly syndrome (MPS VII) |
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| Enzyme Names | α-neuraminidase-sialidase (sialidosis) β-galactosidase (GM1 gangliosidosis, galactosialidosis) β-glucosidase (Gaucher disease) β-glucuronidase (Sly syndrome, MPS VII) |
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| 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 | |
Form Needed
Download biochem-lab-request-form.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
Biochemical Lab
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.