Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of this gene cause hyperoxaluria type 3.
| 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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Belostotsky R et al. (2010) Mutations in DHDPSL are responsible for primary hyperoxaluria type III. 
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| 2. |
Orphanet article Orphanet ID 242313
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| 3. |
NCBI article NCBI 112817
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| 4. |
OMIM.ORG article Omim 613597
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| 5. |
Wikipedia article Wikipedia EN (HOGA1)
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