Neurodegenerative screen (lysosomal enzymes)

Description: 
Combination of 14 fluorimetric, colorimetric and radiolabelled enzyme assays
Reference range: 

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Synonyms or keywords: 
Lysosomal enzymes, Neurodegenerative screen, lysosomal, white cell enzymes, I-cell screen, Hexosaminidase, Hexosaminidase A, ß-glucuronidase, ß-mannosidase, α N-acetylgalactosaminidase, α fucosidase, α mannosidase, chitotriosidase, Arylsulphatase A, Galactocerebrosidase, ß-galactosidase, Palmitoyl protein thioesterase (PPT), Tripeptidyl peptidase 1 (TPPI)
Department: 
Sample type and Volume required: 
5 - 10 ml lithium heparin blood
Call in advance: 
No
Turnaround time: 
6 weeks
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 71887275
E: BiochemicalGenetics@viapath.co.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