Test Database

Fetal and neonatal hydrops screen

Description
Combination of GAG 2D electrophoresis and fluorimetric enzyme assays in amniotic fluid supernatant. Combination of fluorimetric & radiolabelled enzyme assays and Filipin staining (for NPC) in cultured cells.
Related condition
Mucopolysaccharidosis general (amniotic fluid GAGs), Mucolipidosis (amniotic fluid), Mucopolysaccharidosis VII (amniotic fluid), GM1-gangliosidosis (cultured cells), Mucopolysaccharidosis IVA (cultured cells), Niemann-Pick types A/B (cultured cells), LIPA deficiency (cultured cells), Mucopolysaccharidosis type I (cultured cells), Gaucher (cultured cells), Niemann-Pick type C (cultured cells)
Reference range

Contact laboratory

Synonyms
Fetal neonatal hydrops, amniotic fluid, glycosaminoglycans (electrophoresis), ß-glucuronidase, ß-galactosidase, N-acetylgalactosamine 6-sulphatase, neuraminidase, sphingomyelinase, acid esterase, lysosomal acid lipase, α-iduronidase, β-glucosidase, filipin
Testing site
Synnovis : Reference Services : Guy's Hospital
Laboratory
Biochemical Genetics
Sample type and volume required
Cultured cells, some assays on amniotic fluid supernatant
Call in advance
Yes
Storage and transport
Preliminary results can be reported at any stage as required
Turnaround time
Please enquire
Contacts

Biochemical Genetics Laboratory at Guy’s Hospital
Phone: 020 7188 2592
Email: MetabolicEnzymes@synnovis.co.uk
Genetics Department
Tower Wing – 5th Floor
Guy’s Hospital
Great Maze Pond
London SE1 9RT

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