Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Zinc finger protein DZIP1L

The DZIP1L gene encodes a protein that is associated with cilia function. Mutations cause autosomal recessive polycystic kidney disease type 5 (PKD5).

Genetests:

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

Related Diseases:

Polycystic kidney disease 5
DZIP1L

References:

1.

NCBI article

NCBI 199221 external link
2.

OMIM.ORG article

Omim 617570 external link
3.

Orphanet article

Orphanet ID 492474 external link
Update: Aug. 14, 2020
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