Branched chain ketoacid decarboxylase

Description: 
Radiolabelled enzyme assay
Related condition or disease: 
Maple syrup urine disease
Reference range: 

Simultaneous assay controls quoted

Synonyms or keywords: 
Branched chain ketoacid decarboxylase, Maple syrup, MSUD
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
Cultured cells, Prenatal diagnosis available
Call in advance: 
Yes
Turnaround time: 
6 weeks from cultured cells, additional 8 weeks (minimum) from skin biopsy
Criteria for acceptance / rejections of sample
Storage and transport: 
Collect skin biopsies into sterile saline or sterile culture media containing fetal bovine serum and send by first class post or courier. Do not freeze. Mycoplasma testing is carried out as standard.
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