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: 
Reference Services
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:
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