Conduct a Full Clinical Assessment
A full clinical assessment — combining standard nephrological workup, three-generation family history, and detailed phenotyping — is the essential foundation for appropriate genomic test selection and pathway triage in heritable kidney disease.
Appropriate patient selection for genomic testing in nephrology requires a thorough and structured clinical assessment that integrates standard nephrological evaluation with detailed phenotyping and family history. Together, these three components optimise the clinical utility of testing, inform the most suitable test selection, and help determine whether the patient is appropriate for the mainstream nephrology pathway or requires escalation to a Kidney Genetics MDT or clinical genetics service.
The full clinical assessment consists of three parallel components, each outlined in the following chapters:
- Standard nephrology workup — including kidney imaging, urinalysis, eGFR, and characterisation of proteinuria, haematuria pattern, structural abnormalities, and extrarenal manifestations
- Three-generation family history — construction of a pedigree to assess the likelihood of genetic kidney disease and inform variant interpretation
- Clinical phenotyping — detailed documentation of phenotypic features to support a clear genetic hypothesis and guide phenotype-driven genomic analysis
All three components should be completed before proceeding to test selection.
Last Updated: 29 June 2026 at 5:45 am UTC