Test Database

Neurodegenerative screen (lysosomal enzymes)

Description
Combination of 14 fluorimetric, colorimetric and radiolabelled enzyme assays
Related condition
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
Contact laboratory
Synonyms
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)
Testing site
Synnovis : Reference Services : Guy's Hospital
Laboratory
Biochemical Genetics
Sample type and volume required
5 - 10 ml lithium heparin blood
Call in advance
No
Storage and transport
Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
Turnaround time
6 weeks
Contacts

Biochemical Genetics Laboratory at Guy’s Hospital
Phone: 020 7188 2592
Email: MetabolicEnzymes@synnovis.co.uk
Genetics Department
Tower Wing – 5th Floor
Guy’s Hospital
Great Maze Pond
London SE1 9RT

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