N-acetyl neuraminidase

Description: 
Fluorimetric enzyme assay
Related condition or disease: 
Sialidosis
Reference range: 

Simultaneous assay controls quoted

Synonyms or keywords: 
Glycoprotein Disorders, N-acetyl neuraminidase, Sialidosis
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
Cultured cells, Prenatal diagnosis available
Call in advance: 
Yes
Turnaround time: 
4 weeks from cultured cells, additional 8 weeks (minimum) from skin biopsy
Criteria for acceptance / rejections of sample
Storage and transport: 
Collect skin biopsies into sterile saline or sterile culture media containing fetal bovine serum and send by courier. Do not freeze. Mycoplasma testing is carried out as standard.
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: 07/08/2015