Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Homozygous or compound heterozygous loss-of-function mutations of the gene ecoding the enzyme glyoxylate reductase/hydroxypyruvate reductase result in hyperoxaluria typ 2 (oxalosis 2)
| 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 | 15 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
NCBI article NCBI 9380
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| 2. |
OMIM.ORG article Omim 604296
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| 3. |
Orphanet article Orphanet ID 122278
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| 4. |
Wikipedia article Wikipedia EN (GRHPR)
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