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 or disease: 
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 or keywords: 
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
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
Cultured cells, some assays on amniotic fluid supernatant
Call in advance: 
Yes
Turnaround time: 
Please enquire
Criteria for acceptance / rejections of sample
Storage and transport: 
Preliminary results can be reported at any stage as required
Contacts:
Biochemical Genetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2591/2592
F: 020 7188 7275
E: ViapathBiochemicalGenetics@gstt.nhs.uk
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Biochemical Genetics Laboratory at Guy's

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Last updated: 20/11/2019