Table 4.

Potential Indications for Genetic Testing for Monogenic Forms of CKD

The clinical work indicates the possibility of a genetic disease, such as— high prevalence of monogenic subtypes within the clinical category (e.g. congenital/cystic nephropathies or steroid-resistant nephrotic syndrome) positive family history of kidney disease early age of onset (pediatric CKD) syndromic/multisystem features consanguinity possibility of identifying a condition amenable to targeted treatment (e.g., enzyme replacement therapy for Fabry disease) The individual is an at-risk relative of a patient with a known monogenic disease, especially when the individual is a potential kidney donor As an alternative to kidney biopsy in patients at high risk of biopsy-related complications, especially when there is a high pre-test probability of finding a genetic variant based on family or clinical history CKD or kidney failure of unknown etiology when kidney biopsy would not be informative due to advanced disease and there are other features suggestive of hereditary disease Information to guide continuation of immunosuppressive therapy (e.g., in steroid resistant or partially responsive nephrotic syndrome) Genetic testing can provide prognostic information (ADPKD or Alport syndrome, age at kidney failure) Diagnosis of diseases with risk of recurrence in renal allografts (e.g., aHUS/TMA, primary

ADPKD, autosomal dominant polycystic kidney disease; aHUS, atypical hemolytic uremic syndrome; CKD, chronic kidney disease; TMA, thrombotic microangiopathy