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: 
Reference Services
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
020 7188 9652
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ

IMD Duty Biochemist: 07592 502653
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at Blackfriars Hub

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Last updated: 30/01/2026