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. |
| 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 & 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] |