Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Research 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 [^]
2.

OMIM.ORG article

Omim 617570 [^]
3.

Orphanet article

Orphanet ID 492474 [^]
Update: April 29, 2019