Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DZIP1L gene encodes a protein that is associated with cilia function. Mutations cause autosomal recessive polycystic kidney disease type 5 (PKD5).
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
NCBI article NCBI 199221
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| 2. |
OMIM.ORG article Omim 617570
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| 3. |
Orphanet article Orphanet ID 492474
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