PNP prenatal -(Purine nucleoside phosphorylase)

Description: 
Mutation Analysis
Clinical details: 
Family History of PNP deficiency
Related condition or disease: 
PNP prenatal
Reference range: 

Please contact the laboratory to discuss

Units: 
CVS/ Fibroblast
Department: 
Biochemical Sciences Department
Location: 
Blackfriars Hub
Sample type and Volume required: 
CVS/ fibroblast DNA
Turnaround time: 
3 days
Criteria for acceptance / rejections of sample
Storage and transport: 
To laboratory ASAP/ 1st class post
Contacts:
Inherited Metabolic Diseases Unit at Blackfriars Hub
07592 502653
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Reference Chemistry at the Blackfriar's Hub

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Last updated: 08/10/2025