Neurodegenerative screen (lysosomal enzymes)

Description: 
Combination of 14 fluorimetric, colorimetric and radiolabelled enzyme assays
Related condition or disease: 
Mucolipidosis II and III (I-cell disease and pseudo-Hurler polydystrophy), GM2 gangliosidosis (Sandhoff, Tay Sachs and B1 variants), Mucopolysaccharidosis VII (Sly disease), α-mannosidosis, β-mannosidosis, Fucosidosis, Schindler’s disease, Metachromatic Leucodystrophy, Krabbe Leucodystrophy, GM1-gangliosidosis, Infantile and classic late infantile neuronal ceroid lipofuscinosis, Batten disease
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: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
5 - 10 ml lithium heparin blood
Call in advance: 
No
Turnaround time: 
6 weeks
Criteria for acceptance / rejections of sample
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: 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