HPRT prenatal (Hypoxanthine phosphoribosyltransferase)

Description: 
Mutation Analysis
Clinical details: 
Family History of HPRT deficiency
Reference range: 

Please contact the laboratory to discuss

Units: 
CVS/ Fibroblast
Location: 
Sample type and Volume required: 
CVS/ fibroblast DNA
Turnaround time: 
1 week
Storage and transport: 
Store in fridge, ( don’t freeze)to laboratory within 3 days/1st class pos
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.

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Last updated: 08/10/2025