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
615 EURDetails -
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
1145 EURDetails -
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
615 EURDetails -
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
615 EURDetails -
Branchio-oto-renal and branchio-otic syndrome
4 genesEYA1; SIX1; SIX5; TFAP2A
530 EURDetails -
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
615 EURDetails -
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
615 EURDetails -
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
615 EURDetails -
Cystic kidney disease - basic panel
4 genesEYA1; HNF1B; PAX2; UMOD
530 EURDetails -
Diabetes insipidus
2 genesAQP2; AVPR2
530 EURDetails -
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
615 EURDetails -
Hypophosphatemic rickets
14 genesALPL; CLCN5; CYP27B1; CYP2R1; DMP1; ENPP1; FAH; FGF23; KL; PHEX; SLC34A1; SLC34A3; SLC9A3R1; VDR
615 EURDetails -
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
615 EURDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
530 EURDetails -
Meckel syndrome
13 genesB9D1; B9D2; CC2D2A; CEP290; KIF14; MKS1; NPHP3; RPGRIP1L; TCTN2; TMEM107; TMEM216; TMEM231; TMEM67
615 EURDetails -
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
615 EURDetails -
Nephronophtysis
20 genesANKS6; CCDC41; CEP164; CEP290; DCDC2; GLIS2; IFT172; INVS; IQCB1; MAPKBP1; NEK8; NPHP1; NPHP3; NPHP4; RPGRIP1L; SDCCAG8; TMEM67; TTC21B; WDR19; ZNF423
615 EURDetails -
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
615 EURDetails -
Nephrotic syndrome - small panel
7 genesARHGDIA; DGKE; LAMB2; NPHS1; NPHS2; PLCE1; WT1
615 EURDetails -
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
615 EURDetails -
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
615 EURDetails -
Primary hyperoxaluria
3 genesAGXT; GRHPR; HOGA1
530 EURDetails -
Pseudohypoaldosteronism
10 genesCUL3; HSD11B2; KCNJ5; KLHL3; NR3C2; SCNN1A; SCNN1B; SCNN1G; WNK1; WNK4
615 EURDetails -
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
615 EURDetails -
Senior-Loken syndrome
10 genesCEP290; INVS; IQCB1; NPHP1; NPHP3; NPHP4; SCLT1; SDCCAG8; TRAF3IP1; WDR19
615 EURDetails -
Tubular acidosis
8 genesATP6V0A4; ATP6V1B1; CA2; EHHADH; HNF4A; SLC34A1; SLC4A1; SLC4A4
615 EURDetails
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