Table 3.

Current and evolving indications for genetic testing in autosomal dominant polycystic kidney disease

Indications for genetic testing in polycystic kidney disease
Scenarios where genetic testing is clinically indicated
 Suspected ADPKD with no apparent family history
 Suspected ADPKD with equivocal kidney imaging findings
 ADPKD exclusion in young (e.g., <25 yr old) at-risk subjects
  Living related kidney donation evaluation
  Obtaining life or disability insurance
 Prenatal and preimplantation genetic diagnosis
Scenarios with evolving indication for genetic testing
 Identifying “high-risk” patients for novel disease modifier therapy or clinical trial
Delineating the cause of atypical clinical presentation
  Early and severe disease
  Discrepancy between imaging findings and decrease in kidney function
  Asymmetric, unilateral, segmental, or lopsided cystic kidneys
  Marked intrafamilial disease discordance
  Suspected somatic mosaicism
  Syndromic forms of polycystic kidney disease
  • ADPKD, autosomal dominant polycystic kidney disease. Modified from ref. 49, with permission.