Nephrology

None

Product	Type of test	Genes
Alport syndrome	Targeted Exome	COL4A3, COL4A4
Alport syndrome	Targeted Exome	COL4A5, COL4A3, COL4A4
Atypical hemolytic-uremic syndrome	Gene NGS	MCP / CD46
Autosomal recessive polycystic kidney	Gene NGS	PKHD1
Congenital nephrotic syndrome of the...	Gene NGS	NPHS1
Dent disease	Gene NGS	CLCN5
Dent disease	Detección de deleciones/duplicaciones	CLCN5
Familial hyperuricemic nephropathy	NGS Panel	MUC1, REN, UMOD
Familial hypocalciuric hypercalcemia	Gene NGS	CASR
Familial juvenile hyperuricaemic...	Gene NGS	UMOD
Familial Nephrolithiasis	Gene NGS	SLC34A1
Familial Nephrolithiasis	Gene NGS	SLC34A1, CYP24A1
Focal segmental glomerulonephritis	Targeted Exome	ACTN4, APOL1, CD2AP, COQ2, COQ6, INF2, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, PLCE1, PTPRO, ARHGAP24, TRPC6, WT1
Focal segmental glomerulosclerosis 1	Gene NGS	ACTN4
Glucose-galactose malabsorption	Gene NGS	SLC5A1
Hereditary pancreatitis	Gene NGS	PRSS1

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