Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes a phosphate-regulating endopeptidase and its dysfunction results in sevier bone disease.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Brame LA et al. (2004) Renal phosphate wasting disorders: clinical features and pathogenesis. 
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| 2. |
Baroncelli GI et al. (2004) Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
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| 3. |
Orphanet article Orphanet ID 124239
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| 4. |
NCBI article NCBI 5251
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| 5. |
OMIM.ORG article Omim 300550
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| 6. |
Wikipedia article Wikipedia EN (PHEX)
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