Carbamyl phosphate synthetase

Description: 
Colorimetric enzyme assay
Related condition or disease: 
Carbamyl phosphate synthetase deficiency, CPS1
Reference range: 

Simultaneous assay controls quoted

Synonyms or keywords: 
Carbamyl phosphate synthetase, CPS1, urea cycle
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
Liver
Call in advance: 
Yes
Turnaround time: 
2 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
Liver should be snap frozen and sent on dry ice.
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