Genetic Screening of Atypical PKD Families


The core offers sample collection, mutation screening, linkage analysis and gene discovery services to facilitate the study of atypical autosomal dominant PKD (ADPKD) patients.

Atypical ADPKD presentations include extreme disease asymmetry (unilateral PKD), very early disease onset in childhood, atypical radiological patterns, and unusual extrarenal disease manifestations. Additionally, the core analyzes families in which no PKD1 or PKD2 mutation has been detected after analysis — by our or clinical testing — of both genes, as well as families with autosomal recessive PKD (ARPKD)-like disease in which no PKHD1 mutation has been detected. Analysis will vary depending on the atypical features of the family.

The screening will be research testing, but quality control and assurance principles similar to those in a clinical testing laboratory are used.

There will normally not be a charge for this service; please contact the core (see below) with clinical details of the family to determine if it is suitable for this service.

Typical procedure

  • The referring clinician/geneticist will contact the core to determine the suitability of the family for analysis.
  • For approved families, consent forms and blood draw kits (for DNA isolation) will be sent to the referrer or family.
  • DNA will be isolated from consenting family members’ blood samples.
  • Samples are screened for mutations, with each deviation from the reference sequence then evaluated to determine pathogenicity (as described in the ADPKD Mutation Database).
  • In cases where a clear mutation is not detected, screening for larger deletions (by MLPA) is available.
  • In mutation-negative cases, other follow-up studies include mutation screening of PKHD1 and HNF1beta, and of the autosomal dominant polycystic liver disease (ADPLD) genes PRKCSH and SEC63 (where appropriate).
  • In persistently negative families, linkage and whole-exome analysis will be considered to identify a possible novel PKD gene.
  • As this is research testing, a detailed report of the findings will not be provided to the referring clinician or geneticist; however, the core will work with a clinically approved laboratory to confirm the data so it can be used diagnostically.

Submit an email inquiry to the core about this service