Sphingomyelinase

Description: 
Radiolabelled enzyme assay
Reference range: 

Simultaneous assay controls quoted

Synonyms or keywords: 
Lysosomal, Sphingolipidosis, Sphingomyelinase, Niemann-Pick
Department: 
Location: 
Sample type and Volume required: 
5 - 10 ml lithium heparin blood, Cultured cells, Prenatal diagnosis available
Call in advance: 
No
Turnaround time: 
2 weeks from blood sample, additional 3 to 8 weeks (minimum) from cultured cells or skin biopsy (respectively)
Storage and transport: 
Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
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.

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Last updated: 07/08/2015