Phänotyp
Renale Glucosurie
Gen
SLC5A2
OMIM-Gen #
618633
Methodik
Sequenzierung

Phänotyp
Primäre Hyperoxalurie
Gen
AGXT
GRHPR
HOGA1
OMIM-Gen #
604285
604296
613597
Methodik
Sequenzierung, MLPA

Phänotyp
Nephronophthise​​​​​​​
Gen
NPHP1​​​​​​​​​​​​​​
OMIM-Gen #
607100​​​​​​​
Methodik
MLPA