Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene SLC34A3 encodes a sodium phosphate transporter located in the apical membrane of proximal tubulus cells. Inactivating mutations result in hyperphosphaturie with hypercalciuria and rickets, which is inherited in an autosomal recessive pattern.
The gene SLC34A3 is expressed exclusively in the kidney where the encoded transporter is found in the apical membrane of proximal tubulus cells.
Loss-of-function mutation in the SLC34A3 gene cause autosomal recessive hypophosphatemic rickets with hypercalciuria. Truncating and missense mutations have been described as pathogenetic relevant.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
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