Hepato(spleno)megaly screen (lysosomal enzymes)

Description: 
Combination of 13 fluorimetric, colorimetric and radiolabelled 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, Gaucher disease, Niemann-Pick type A/B, GM1-gangliosidosis, Wolman disease, Cholesterol ester storage disease, LIPA deficiency
Reference range: 

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Synonyms or keywords: 
Lysosomal enzymes, hepatomegaly, splenomegaly, hepatosplenomegaly, lysosomal, white cell enzymes, I-cell screen, Hexosaminidase, Hexosaminidase A, ß-glucuronidase, ß-mannosidase, α N-acetylgalactosaminidase, α fucosidase, α mannosidase, chitotriosidase, Sphingomyelinase, ß-glucosidase, ß-galactosidase, lysosomal acid lipase
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
5 - 10 ml lithium heparin blood
Call in advance: 
No
Turnaround time: 
8 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