HPRT prenatal (Hypoxanthine phosphoribosyltransferase)

Description: 
Mutation Analysis
Clinical details: 
Family History of HPRT deficiency
Related condition or disease: 
HPRT 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: 
1 week
Criteria for acceptance / rejections of sample
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.
Laboratory: 
Reference Chemistry at the Blackfriar's Hub

Print as a PDF

Last updated: 08/10/2025