Genetic Screening of Atypical PKD Families

The Molecular Genetics and Biomarker Core offers sample collection, mutation screening and gene discovery services to facilitate the study of patients with atypical autosomal dominant polycystic kidney disease (ADPKD).

Atypical ADPKD presentations include extreme disease asymmetry (unilateral PKD), very early disease onset in childhood, atypical radiological patterns, unusual extrarenal disease manifestations and mild renal disease.

The Molecular Genetics and Biomarker Core also analyzes families of patients in which no PKD1 or PKD2 mutation has been detected after research testing or clinical testing of both genes. The core also analyzes families with autosomal recessive polycystic kidney disease (ARPKD)-like disease or other ciliopathy-like phenotypes with PKD in which no mutation has been detected. Analysis varies depending on the features of the family.

Although the screening is research testing, the core uses quality control and assurance principles similar to those in a clinical testing laboratory.

Typical procedure

  • The referring clinician or geneticist contacts the core to determine the suitability for analysis.
  • For approved families, participation consent forms and blood draw kits for DNA isolation are sent to the referrer or family, and clinical information is collected.
  • DNA is isolated from blood samples of participating family members or DNA from the patient is submitted. Review the core's DNA submission criteria.
  • Samples are screened for mutations, with each deviation from the reference sequence evaluated to determine pathogenicity, as described in the ADPKD Mutation Database for the ADPKD genes.
  • In cases where a clear mutation isn't detected, the core uses screening for larger deletions by MLPA.
  • In mutation-negative cases, other follow-up studies include mutation screening of PKHD1 and HNF1B, and of the polycystic liver disease genes, when appropriate.
  • In families with persistent negative results, the core uses targeted next-generation sequencing or whole-exome analysis, or both, to identify a possible novel PKD gene.
  • Because this is research testing, a detailed report of the findings isn't provided to the referring clinician or geneticist. However, the core works with clinically approved laboratories to confirm the data so that it can be used diagnostically.


There is typically no fee for this ADPKD genetic screening.

Email us for more information about genetic screening of atypical PKD families.