Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ANKS6 gene encodes a ciliary protein. Mutations cause a recessive ciliopathy, Nephronophthisis 16.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Hoff S et al. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 
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| 2. |
Kaisaki PJ et al. () Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.
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| 3. |
NCBI article NCBI 203286
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| 4. |
OMIM.ORG article Omim 615370
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| 5. |
Orphanet article Orphanet ID 361188
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