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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
Notes

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