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. |
2. |
Orphanet article Orphanet ID 242313 |
3. |
NCBI article NCBI 112817 |
4. |
OMIM.ORG article Omim 613597 |
5. |
Wikipedia article Wikipedia EN (HOGA1) |