Primary Hyperoxaluria Genetics
|Category||Biochemistry >> Metabolic|
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.
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]