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.
Clinical 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 Required 5 ml whole blood EDTA (purple top) or locally extracted DNA
20 mg of well dissected chorionic villus sample
Turnaround Time
Step one test (screening for commonest mutations) 10 days
Whole gene sequencing 28 days
Notes For enquiries regarding these tests please contact Dr Emma Walker on 020 331 35921 or emma.walker15@nhs.net