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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.
The Metabolic Laboratory of the Greenwood Genetic Center offers a hydrops panel
analyzing the following enzymes:
- α-neuraminidase-sialidase (sialidosis)
- β-galactosidase (GM1 gangliosidosis, galactosialidosis)
- β-glucosidase (Gaucher disease)
- β-glucuronidase (Sly syndrome, MPS VII)
Specimen required: Fibroblasts are required for
analysis. Amniocyte studies will be accepted only with prior approval from the
laboratory.
Transport: Fresh tissue for culture should be sent by
courier or overnight delivery.
Standard of Analysis: Measurement of enzymes will
employ 4-methylumbelliferyl substrate
Time required: If cell culture is required, analysis
should be completed in 3-4 weeks. If cell culture is not required, analysis
should be available within 1 week of sample receipt.
Reports: Written reports with interpretation are mailed
to the referring physician. When an abnormality is detected the report will also
be telephoned to the referring physician.
CPT Codes: 82657(x4)
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