Table 1.

Different testing modalities and their current indications in nephrology

Test	Indications	Examples
Sanger sequencing	Disorders with minimal locus heterogeneity	Fabry disease (GLA), Denys–Drash (WT1), cystinosis (CTNS)
CGH/SNP array, MLPA	Large CNVs suspected	CAKUT, aHUS (CFH, CFHR), nephronophthisis (NPHP1)
Targeted phenotype- associated gene panel   Targeted ES (virtual gene panel)	Disorders with locus heterogeneity   Disorders with overlapping phenotypes   Disorders associated with genes from common pathway	SRNS Hereditary tubulopathies, Complement-related disorders
ES	Phenotype indistinct and underlying cause unknown   Second-tier test after gene panel testing	Unexplained kidney failure
GS	Due to high costs, interpretation challenges and long analytical period, currently only used in research for cases still unsolved after ES   Emerging clinical use	ADPKD (PKD1)