Urinary system
About this category
Genetic disorders related to the malfunction of the urinary system can, among others, cause: impaired absorption of phosphorus, potassium, chloride and magnesium in the kidneys, failure to concentrate the urine, abnormal structure of the kidneys, damage to the glomeruli.
Disease diagnostics, based on the highest-quality genetic test using the next-generation sequencing method, enables appropriate therapy for the patient. All tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
26 panels-
Alport syndrome
Frequently chosen 6 genesCD151; COL4A3; COL4A4; COL4A5; COL4A6; MYH9
2194 PLNDetails -
Atypical hemolytic-uremic syndrome
22 genesADAMTS13; C3; C5; CD46; CD59; CFB; CFH; CFHR1; CFHR2; CFHR3; CFHR4; CFHR5; CFI; CR1; CR2; DGKE; INF2; MMACHC; MUT; PIGA; PLG; THBD
4094 PLNDetails -
Bardet-Biedl Syndrome
29 genesALMS1; ARL6; BBIP1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; C8orf37; CCDC28B; CEP19; CEP290; CPE; IFT172; IFT27; IFT74; LZTFL1; MKKS; MKS1; PNPLA6; SCAPER; SDCCAG8; TMEM67; TRIM32; TTC8; WDPCP
2194 PLNDetails -
Bartter syndrome
27 genesAP2S1; ATP6V1B1; BSND; CA2; CASR; CLCNKA; CLCNKB; CLDN16; CLDN19; FXYD2; GNA11; HSD11B2; KCNJ1; KCNJ10; KLHL3; MAGED2; NR3C2; SCNN1A; SCNN1B; SCNN1G; SLC12A1; SLC12A2; SLC12A3; SLC4A1; SLC4A4; WNK1; WNK4
2194 PLNDetails -
Branchio-oto-renal and branchio-otic syndrome
4 genesEYA1; SIX1; SIX5; TFAP2A
1894 PLNDetails -
C3 nephropathy
33 genesADAM19; ADIPOQ; ADIPOR1; ADIPOR2; APOE; C3; C3AR1; C4BPB; C5; C5AR2; C8A; CD46; CD93; CFB; CFD; CFH; CFHR1; CFHR2; CFHR3; CFHR4; CFHR5; CFI; CFP; CLU; CR1; CRP; DGKE; FN1; MAT2A; PTX3; THBD; VSIG4; VTN
2194 PLNDetails -
Ciliopathies
138 genesACVR2B; AHI1; ALMS1; ANKS6; ARL13B; ARL6; ARMC4; ARMC9; B9D1; B9D2; BBIP1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; C21orf2; C2CD3; C5orf42; C8orf37; CC2D2A; CCDC103; CCDC114; CCDC28B; CCDC39; CCDC40; CCDC41; CCDC65; CCNO; CENPF; CEP104; CEP120; CEP164; CEP19; CEP290; CEP41; CFTR; CPE; CRB2; CSPP1; DCDC2; DDX59; DHCR7; DNAAF1; DNAAF2; DNAAF3; DNAH11; DNAH5; DNAI1; DNAI2; DNAL1; DRC1; DYNC2H1; DYNC2LI1; DYX1C1; EVC; EVC2; FAM58A; GLI2; GLI3; GLIS2; GLIS3; HEATR2; HYDIN; HYLS1; IFT122; IFT140; IFT172; IFT27; IFT43; IFT52; IFT74; IFT80; IFT81; INPP5E; INVS; IQCB1; KIAA0556; KIAA0586; KIAA0753; KIF14; KIF7; LEFTY2; LRRC6; LZTFL1; MAPKBP1; MKKS; MKS1; NEK1; NEK8; NME8; NODAL; NPHP1; NPHP3; NPHP4; OFD1; PDE6D; PKD1; PKD2; PKHD1; PMM2; PNPLA6; POC1B; RPGR; RPGRIP1L; RSPH1; RSPH4A; RSPH9; SCAPER; SCLT1; SDCCAG8; SPAG1; TCTEX1D2; TCTN1; TCTN2; TCTN3; TMEM107; TMEM138; TMEM216; TMEM231; TMEM237; TMEM67; TRAF3IP1; TRIM32; TTC21B; TTC8; USP9X; WDPCP; WDR19; WDR34; WDR35; WDR60; ZIC3; ZMYND10; ZNF423
2194 PLNDetails -
Cystic kidney disease
46 genesANKS6; BICC1; CCDC41; CEP164; CEP290; COL4A1; CRB2; DCDC2; DNAJB11; DZIP1L; EYA1; GANAB; GLIS2; HNF1B; IFT172; INVS; IQCB1; JAG1; LRP5; MAPKBP1; MUC1; NEK8; NOTCH2; NPHP1; NPHP3; NPHP4; OFD1; PAX2; PKD1; PKD2; PKHD1; PRKCSH; REN; RPGRIP1L; SDCCAG8; SEC61A1; SEC63; SIX5; TMEM67; TSC1; TSC2; TTC21B; UMOD; VHL; WDR19; ZNF423
2194 PLNDetails -
Cystic kidney disease - basic panel
4 genesEYA1; HNF1B; PAX2; UMOD
1894 PLNDetails -
Diabetes insipidus
2 genesAQP2; AVPR2
1894 PLNDetails -
Hypomagnesemia
25 genesATP1A1; BSND; CASR; CLCNKB; CLDN16; CLDN19; CNNM1; CNNM2; CNNM4; EGF; FAM111A; FXYD2; HNF1B; KCNA1; KCNJ10; MAGT1; MMGT1; NIPA2; PCBD1; SARS2; SLC12A3; SLC41A2; SLC41A3; TRPM6; TRPM7
2194 PLNDetails -
Hypophosphatemic rickets
14 genesALPL; CLCN5; CYP27B1; CYP2R1; DMP1; ENPP1; FAH; FGF23; KL; PHEX; SLC34A1; SLC34A3; SLC9A3R1; VDR
2194 PLNDetails -
Joubert syndrome
46 genesAHI1; ARL13B; ARL3; ARMC9; B9D1; B9D2; C21orf2; C2CD3; C5orf42; CC2D2A; CEP104; CEP120; CEP164; CEP290; CEP41; CSPP1; EXOC8; FAM149B1; GLI3; IFT172; INPP5E; KIAA0556; KIAA0586; KIAA0753; KIF7; MKS1; NEK8; NPHP1; NPHP3; OFD1; PDE6D; PIBF1; POC1B; RPGRIP1L; SUFU; TCTN1; TCTN2; TCTN3; TMEM107; TMEM138; TMEM216; TMEM231; TMEM237; TMEM67; TTC21B; ZNF423
2194 PLNDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
1894 PLNDetails -
Meckel syndrome
13 genesB9D1; B9D2; CC2D2A; CEP290; KIF14; MKS1; NPHP3; RPGRIP1L; TCTN2; TMEM107; TMEM216; TMEM231; TMEM67
2194 PLNDetails -
Nephrocalcinosis (kidney calcification)
29 genesAGXT; APRT; ATP6V0A4; ATP6V1B1; CASR; CLCN5; CLDN16; CLDN19; CYP24A1; ELN; GDNF; GRHPR; HGD; HOGA1; HPRT1; KCNJ1; LIMK1; OCRL; RET; SLC12A1; SLC22A1; SLC2A9; SLC34A1; SLC34A3; SLC3A1; SLC4A1; SLC7A9; UMPS; XDH
2194 PLNDetails -
Nephronophtysis
20 genesANKS6; CCDC41; CEP164; CEP290; DCDC2; GLIS2; IFT172; INVS; IQCB1; MAPKBP1; NEK8; NPHP1; NPHP3; NPHP4; RPGRIP1L; SDCCAG8; TMEM67; TTC21B; WDR19; ZNF423
2194 PLNDetails -
Nephrotic syndrome - large panel
Frequently chosen 50 genesACTN4; ADCK4; ANLN; APOL1; ARHGAP24; ARHGDIA; AVIL; CD2AP; COL4A3; COL4A4; COL4A5; COQ2; CRB2; DGKE; DLC1; EMP2; FAN1; FAT1; FN1; INF2; ITGA3; KANK1; KANK2; KANK4; LAMB2; LMX1B; MAFB; MAGI2; MYH9; MYO1E; NPHS1; NPHS2; NUP107; NUP133; NUP160; NUP205; NUP85; NUP93; OSGEP; PLCE1; PTPRO; SCARB2; SGPL1; SMARCAL1; TBC1D8B; TRPC6; TTC21B; WDR73; WT1; XPO5
2194 PLNDetails -
Nephrotic syndrome - small panel
7 genesARHGDIA; DGKE; LAMB2; NPHS1; NPHS2; PLCE1; WT1
2194 PLNDetails -
Nephrotic syndrome, proteinuria
61 genesACTN4; ADCK4; ANLN; APOL1; ARHGAP24; ARHGDIA; CD2AP; CLCN5; COL4A3; COL4A4; COL4A5; COQ2; COQ6; CRB2; CUBN; DGKE; DLC1; EMP2; FAN1; FAT1; FN1; INF2; ITGA3; KANK1; KANK2; KANK4; LAGE3; LAMB2; LMX1B; LYZ; MAFB; MAGI2; MYH9; MYO1E; NPHS1; NPHS2; NUP107; NUP133; NUP205; NUP85; NUP93; OCRL; OSGEP; PAX2; PDSS2; PLCE1; PTPRO; SCARB2; SGPL1; SMARCAL1; TBC1D8B; TP53RK; TPRKB; TRIM8; TRPC6; TTC21B; TTR; WDR4; WDR73; WT1; XPO5
2194 PLNDetails -
Primary cilliary dyskinesia
49 genesARMC4; C11orf70; C21orf59; CCDC103; CCDC114; CCDC151; CCDC39; CCDC40; CCDC65; CCNO; CENPF; CFTR; DNAAF1; DNAAF2; DNAAF3; DNAH1; DNAH11; DNAH5; DNAH8; DNAH9; DNAI1; DNAI2; DNAJB13; DNAL1; DRC1; DYX1C1; FOXJ1; GAS2L2; GAS8; HEATR2; HYDIN; INVS; LRRC56; LRRC6; MCIDAS; NEK10; NME8; OFD1; PIH1D3; RPGR; RSPH1; RSPH3; RSPH4A; RSPH9; SPAG1; STK36; TTC12; TTC25; ZMYND10
2194 PLNDetails -
Primary hyperoxaluria
3 genesAGXT; GRHPR; HOGA1
1894 PLNDetails -
Pseudohypoaldosteronism
10 genesCUL3; HSD11B2; KCNJ5; KLHL3; NR3C2; SCNN1A; SCNN1B; SCNN1G; WNK1; WNK4
2194 PLNDetails -
Renal malformations
36 genesACE; ACTG2; AGT; BMP4; CDC5L; CHD1L; DSTYK; EYA1; FAM58A; FANCB; FOXC2; FRAS1; FREM1; FREM2; GATA3; GREB1L; GRIP1; HNF1B; KYNU; NRIP1; PAX2; PBX1; PSMD12; PUF60; REN; RET; ROBO2; SALL1; SALL4; SIX1; SIX2; SIX5; SOX17; TBX18; WNT4; WT1
2194 PLNDetails -
Senior-Loken syndrome
10 genesCEP290; INVS; IQCB1; NPHP1; NPHP3; NPHP4; SCLT1; SDCCAG8; TRAF3IP1; WDR19
2194 PLNDetails -
Tubular acidosis
8 genesATP6V0A4; ATP6V1B1; CA2; EHHADH; HNF4A; SLC34A1; SLC4A1; SLC4A4
2194 PLNDetails
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