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 |
2. |
OMIM.ORG article Omim 604296 |
3. |
Orphanet article Orphanet ID 122278 |
4. |
Wikipedia article Wikipedia EN (GRHPR) |