Skip to main content

Please note that this is a beta version of our website. Should you encounter any bugs, glitches, lack of functionality or other problems on the website, please let us know immediately so we can rectify these accordingly. Your help in this regard is greatly appreciated! You can email us.

Login to North West London Pathology – consumables service

If you need a new account or you have a query about your order, please telephone the pathology call centre on 0203 313 5353.

If you have forgotten your password you can reset this yourself. Please click here if you have forgotten your password.

Results Line and Enquiries

0203 313 5353

Primary Hyperoxaluria Genetics

Category Biochemistry >> Metabolic
Test background

The primary hyperoxalurias (PH) are a group of inherited disorders of endogenous oxalate overproduction. Mutations in the AGXT, GRHPR and HOGA1 genes lead to Primary Hyperoxaluria types 1, 2 and 3 respectively. We offer whole gene sequencing of these genes.

Clinicial Indications

Primary hyperoxaluria is characterised by increased urine oxalate, nephrocalcinosis and/or recurrent calcium oxalate renal stones, with renal failure in the most severe cases.

Sample & container required 5 ml whole blood EDTA (purple top) or locally extracted DNA 20 mg of well dissected chorionic villus sample
Transport storage Ship at ambient temperature.
Turnaround time Step one test (screening for commonest mutations) 10 days; Whole gene sequencing 28 days

For enquiries regarding these tests please contact Dr Emma Walker on 020 331 35921 or [email protected]