Purine/pyrimidine screen (plasma)

Description
Detection of abnormal purine metabolites in plasma. ADSL, TP deficiency (MNGIE), low urate, high urate.
Clinical details

ADSL, TP deficiency (MNGIE), low urate, high urate.

Related condition
Reference range

Please contact the laboratory to discuss

Testing site
Synnovis : Reference Services : Blackfriars Hub
Laboratory
Inherited Metabolic Disease
Sample type and volume required

2 – 5 mL plasma

Storage and transport

to lab within 3 days/1st class post

Turnaround time

3 weeks

Contacts

Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ

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