Unexplained Young-onset End-stage Renal Disease Panel

Unexplained Young-Onset End-Stage Renal Disease (ESRD) is a progressive kidney failure that occurs before age 36, where the cause is not identified through standard clinical, biochemical, or imaging tests. Its prevalence varies, but some studies suggest that a significant percentage of young patients with ESRD fall into this category, with genetics being the most common underlying factor discovered through genomic testing. Common genetic causes include conditions associated with variants in genes that code collagen type IV molecules, nephronophthisis, and autosomal dominant tubulointerstitial disease.

Genetic disorders associated with unexplained end-stage renal disease in children and young adults are diverse and exhibit different inheritance patterns, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial forms. One mitochondrial gene is included on this panel, MT-TF, which has been associated with tubulointerstitial kidney disease in multiple individuals in the literature.

This is a comprehensive panel that includes genes associated with the following nephrology disorders:

- Cystic kidney disease 

- Renal tubulopathies 

- Proteinuric renal disease 

- Nephrocalcinosis or nephrolithiasis 

- Renal ciliopathies 

- Tubulointerstitial kidney disease 

- Membranoproliferative glomerulonephritis including C3 glomerulopathy 

- Atypical haemolytic uraemic syndrome 

- Haematuria 

- Hereditary systemic amyloidosis 

Additional genes associated with Unexplained young onset end-stage renal disease.