Kidney diseases

Small panel (#148)

ADAMTS13, C3, CD46, CFB, CFH, CFHR5, CFI, DGKE, MMACHC, THBD
(10 genes, 24,2 kb)

Large panel (#191)

ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, SAMD9, SAMD9L, MMACHC, THBD
(16 genes, 36,5 kb)

MLPA: CD46, CFI

Small panel (#33)

COL4A3, COL4A4, COL4A5 
(3 genes, 15,1 kb)

Large panel (#34)

COL4A3, COL4A4, COL4A5, MYH9, COL4A1
(5 genes, 26 kb)

Small panel (#28)

ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8 
(14 genes, 24,2 kb)

Large panel (#71)

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP 
(22 genes, 42 kb)

Small panel (#42)

BSND, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3 
(7 genes, 14,5 kb)

MLPA: 

SLC12A3

Small panel (#35)

BMP4, CHD1L, DSTYK, EYA1, GATA3, HNF1B, MUC1, PAX2, RET, ROBO2, SALL1, UMOD 
(12 genes, 24,4 kb)

Large panel (#117)

BICC1, BMP4, BMP7, CDC5L, CHD1L, CHRM3, CRKL, DSTYK, EYA1, FGF20, FRAS1, FREM1, FREM2, GATA3, GLIS3, GREM1, GRIP1, HNF1B, HPSE2, ITGA8, JAG1, KAL1/ANOS1, KAT6B, LIFR, LRIG2, LRP4, MUC1, NOTCH2, NRIP1, PAX2, PBX1, RAD51C, RET, ROBO2, SALL1, SALL4, SIX1, SIX2, SIX5, SOX17, STRA6,TBC1D1,TBC1D24, TBX18, TNXB, TRAP1, UMOD, UPK3A, WNT4, WT1 
(50 genes, 146,7 kb)

Small panel (Sanger sequencing)

AGXT, HOGA1, GRHPR 
(3 genes, 3,2 kb)

Small panel (#43)

CUL3, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C2, PDE3A, SCNN1A, SCNN1B, SCNN1G, WNK4 
(11 genes, 24,1 kb)

Long-range PCR: CYP11B1-CYP11B2 fusion gene (fam. hyperaldosteronism type I)

Large panel (#190):

CACNA1D, CACNA1H, CLCN2, CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C1, NR3C2, PDE3A, PPARG, RMND1, SCNN1A, SCNN1B, SCNN1G, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, TMEM127, WNK1, WNK4 
(26 genes, 60,7 kb)

Long-range PCR: CYP11B1-CYP11B2 fusion gene (fam. hyperaldosteronism type I)

MLPA: 

SDHAF2, SDHB, SDHC, SDHD

Small panel (#40)

DYNC2H1, EVC, EVC2, IFT80, WDR34 
(5 genes, 23,8 kb)

Large panel (#69)

CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
(18 genes, 66,7 kb)

Small panel (#024)

AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67 
(8 genes, 24,9 kb)

MLPA: 

NPHP1

Large panel (#025)

AHI1, ARL13B, ATXN10, B9D1, B9D2, C5ORF42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556/KATNIP, KIAA0586, KIF7, MKS1, NPHP1*, NPHP3, OFD1, PDE6D, POC1B, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423
(31 genes, 85,2 kb)

MLPA: 

NPHP1

Small panel (#26)

CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67 
(7 genes, 23,1 kb)

Large panel (#27)

B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67 
(12 genes, 34,6 kb)

Small panel (#53)

AGXT, APRT, CASR, CLCN5, CYP24A1, GRHPR, HOGA1, SLC2A9, SLC34A1, SLC36A2, SLC3A1, SLC7A9, SLC9A3R1, XDH
(14 genes, 24,3 kb)

Large panel (#248)

AGXT, APRT, CASR, CLCN5, CLDN14, CLDN16, CLDN19, CYP24A1, FAM20A, GCM2, GDNF, GRHPR, GTF2L, GUCY2C, HOGA1, HPRT1, INSR, MOCOS, OCRL, PRPS1, PTH1R, SBDS, SLC2A9, SLC26A1, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A9, SLC9A3R1, XDH
(33 genes, 57,8 kb)

MLPA: 

AGXT, GRHPR, SLC3A1, SLC7A9

Small panel (#31)

CEP290, IQCB1, NPHP1, NPHP3, NPHP4, TMEM67 
(6 genes, 22,7 kb)

MLPA: 

NPHP1

Large panel (#189)

ADAMTS9, ANKS6, CEP164, CEP290, CEP83/CCDC41, DCDC2, FAN1, GLIS2, INVS/NPHP2, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, SLC41A1, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423
(21 genes, 68,3 kb)

MPLA: 

NPHP1

Congenital/infantile/childhood:

Small panel (#37)

CD2AP, COQ6, LAMB2, NPHS1, NPHS2, PLCE1, TRPC6, WT1 
(8 Gene, 24,8 kb)

Juvenile/Adult:

Small panel (#38)

ACTN4, COL4A3, COL4A4, COL4A5, INF2, NPHS2, TRPC6
(7 genes, 25,0 kb)

Nephrotic syndrome/focal segmental glomerulosclerosis, complete:

Large panel (#118)

ACTN4, ADCK4, ARHGAP24,  ALMS1, ANLN, APOA1, APOL1, ARHGDIA, CD2AP, CD151, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAT1, FGA, FN1, G6PC, GLA, INF2, ITGA3, KANK1, KANK2, KANK4, LAMB2, LMX1B, LRP2, LYZ, MEFV, MMACHC, MYH9, MYO1E, NPHS1, NPHS2,   NUP107, NUP205, NUP93, NXF5, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SALL1, SCARB2, SEC61A1, SGPL1, SMARCAL1, TRPC6, WDR73, WT1, XPO5
(58 genes, 190,7 kb)

Small panel (#106): Syndromic SRNS (steroid-resistant nephrotic syndrome)

ADCK4, ARHGDIA, GATA3, INF2, LMX1B, MAFB, MYH9, PAX2, PMM2, SCARB2, SMARCAL1, WDR73, WT1 
(13 genes, 24,4 kb)

MLPA: 

COL4A3, COL4A4, COL4A5, LMX1B, WT1

Small panel (#45)

CDKN1B, DIS3L2, FH, FLCN, HRAS, MET, TSC1, TSC2, VHL, WT1 
(10 genes, 22,4 kb)

Large panel (#121)

BUB1B, CDKN1B, DICER1, DIS3L2, FH, FLCN, HNF1A, HRAS, MAX, MET, NF1, NF2, PIK3CA, TRIP13, TSC1, TSC2, VHL, WT1 
(18 genes, 48,8 kb)

MLPA: 

FLCN, TSC1, TSC2, VHL, WT1, HNF1A

Small panel (#75)

ATP7B, CASR, CDC73, CLCN5, COX10, FGF23, HNF4A, HRAS, OCRL, PHEX, SLC2A2, SLC34A1, SLC9A3R1
(13 genes, 24,5 kb)

Large panel (#76)

APOPT1, ATP7B, CASR, CDC73, CLCN5, COA5, COX10, COX6B1, DMP1, EHHADH, , ENPP1, FASTKD2, FGF23, HNF4A, HRAS, MEN1, OCRL, PHEX, PTH1R, SLC2A2, SLC34A1, SLC9A3R1, TACO1
(23 genes, 39,3 kb)

Dominant inheritance:

Small panel (#192)

1. PKD1, 2. DNAJB11, EYA1, HNF1B, OFD1, PAX2, PKD2 
(7 genes, 24,6 kb)

MLPA: 

PKD1, PKD2

Recessive inheritance:

Small panel (#247)

1. PKHD1, 2. DZIP1L, OFD1
(3 genes, 17,5 kb)

Tubulointerstitial nephropathy

Small panel (#51)

FAN1, HNF1B, MUC1, PAX2, REN, UMOD 
(6 genes, 6,9 kb)

Polycystic kidney disease, complete

Large panel (#193)

BMP4, CHD1L, DNAJB11, DZIP1L, EYA1, FAN1, FRAS1, GANAB, HNF1B, LRP5, MUC1, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, RAD51C, REN, RET, SEC63, TMEM260, TSC1, TSC2, UMOD 
(25 genes, 89,2 kb)

MLPA: 

HNF1B, PKD1, PKD2, TSC1, TSC2

Small panel (#209)

APOA1, APOA2, APOC2, APOC3, APP, B2M, CST3, FGA, GSN, LYZ, MEFV, MVK, NLRP3, TTR 
(14 genes, 16,6 kb)

Small panel (#188)

ATP6V0A4, ATP6V1B1, CA2, FOXI1, SLC4A1, SLC4A4, VPS33B 
(7 genes, 13,6 kb)

Standard panel (Sanger sequencing)

ACE, AGT, AGTR1, REN 
(4 genes, 7,8 kb)

Large panel (#67)
All genes in the panel (411 genes, 1014,8 kb)

ACE (3,9 kb), ACTN4 (2,7 kb), ADAMTS13 (4,3 kb), ADCK4 (1,6 kb), AGT (1,5 kb), AGTR1 (1,2 kb), AGXT (1,2 kb), ALAD (0,99 kb), AP2S1 (0,43 kb), AQP2 (0,8 kb), ARHGDIA (0,6 kb), BBS10 (2,2 kb), BSND (0,96 kb), C3 (5 kb), CASR (3,2 kb), CD46 (1,2 kb), CFB (2,3 kb), CFH (3,7 kb), CFI (1,8 kb), CLCN2 (2,7 kb), CLCN5 (2,2 kb), CLCNKA (2,1 kb), CLCNKB (2,1 kb), CLDN16 (0,92 kb), CLDN19 (0,68 kb), COL4A3 (5 kb), COL4A4 (5,1 kb), COL4A5 (5,1 kb), COQ2 (1,3 kb), COQ6 (1,4 kb), COQ8B/ADCK4 (1,64 kb), CRB2 (3,9 kb), CYP24A1 (1,5 kb), DGKE (1,7 kb), DIS3L2 (2,7 kb), DNAJB11 (1,1 kb), DZIP1L (2,3 kb), FAN1 (3,1 kb), FLCN (1,7 kb), GANAB (2,9 kb), GNA11 (1,1 kb), GRHPR (1 kb), HNF1A (1,9 kb), HNF1B (1,7 kb), HNF4A (1,36 kb), HOGA1 (1 kb), HPRT1 (0,66 kb), HSD11B2 (1,22 kb), INF2 (3,8 kb), INVS/NPHPL (3,2 kb), KCNJ1 (1,18 kb), KCNJ10 (1,1 kb), KCNJ5 (1,3 kb), LAMB2 (5,4 kb), LMX1B (1,2 kb), LRP5 (4,8 kb), MAGED2 (1,8 kb), MAX (0,5 kb), MMACHC (0,8 kb), MUC1 (nach Rücksprache), MYH9 (5,9 kb), MYO1E (3,3 kb), NPHP1 (2,2 kb), NPHP2 (3,2 kb), NPHP3 (4 kb), NPHS1 (3,7 kb), NPHS2 (1,2 kb), NR3C2 (3 kb), PAX2 (1,3 kb), PDSS2 (1,2 kb), PKD1 (12,9 kb), PKD2 (2,9 kb), PKHD1 (12,2 kb), PLCE1 (6,9 kb), PTPRO (3,7 kb), REN (1,2 kb), RET(3,3 kb), SCNN1B (1,9 kb), SCNN1G (2 kb), SLC12A3 (3,1 kb), SLC34A1 (1,9 kb), SLC3A1 (2,1 kb), SLC7A9 (1,5 kb), SMARCAL1 (2,9 kb), THBD (1,7 kb), TRPC6 (2,8 kb), TSC1 (3,5 kb), TSC2 (5,4 kb), UMOD (1,9 kb), VHL (0,6 kb), WDR73 (1,1 kb), WNK1 (7,15 kb), WNK4 (3,73 kb), WT1 (1,6 kb)