Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Urate transporter

Mutations of this renal urate transporter cause hypouricemia by hyperuricuria, which results in urate kidney stones.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 15
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Renal Hypouricemia
SLC22A12
SLC2A9

References:

1.

Capasso G et al. (2005) Uric acid and the kidney: urate transport, stone disease and progressive renal failure.

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2.

Mount DB et al. (2006) Renal urate transport.

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Update: Sept. 26, 2018