Comprehensive Nephrology Panel

The comprehensive nephrology panel includes all the genes from the different panels related to renal diseases.

If chosen, a well described phenotype is critical to ensure a proper variant interpretation.

Renal diseases affect kidney function and can lead to serious health issues if untreated. These conditions are passed down through families and can lead to haematuria, proteinuria, impaired kidney function, kidney failure, and other complications depending on the specific gene variant. Examples are the Autosomal Dominant Polycystic Kidney Disease (ADPKD) (the most common form) and Alport Syndrome. This comprehensive panel includes genes associated with the following nephrology disorders:

- Alport syndrome/Haematuria 

- Atypical haemolytic uraemic syndrome 

- Bartter Syndrome 

- Cystic kidney disease 

- Diabetes Insipidus, Nephrogenic 

- Extreme Early onset hypertension 

- Hereditary systemic amyloidosis 

- Membranoproliferative glomerulonephritis including C3 glomerulopathy 

- Nephrocalcinosis or nephrolithiasis  

- Proteinuric renal disease  

- Pseudohypoaldosteronism 

- Rare multisystem ciliopathy 

- Renal malformations (CAKUT)  

- Renal tubulopathies  

- Tubulointerstitial kidney disease 

- Unexplained kidney failure in young people  

- Unexplained young onset end-stage renal disease 

One mitochondrial gene is also included on this panel, MT-TF, which has been associated with tubulointerstitial kidney disease in multiple individuals in the literature.