Kidney diseases

aHUS

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

Alport syndrome

Small panel (#33)

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


Large panel (#34)

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

Bardet-Biedl syndrome

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)

Bartter+Gitelman syndrome

Small panel (#42)

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


MLPA: 

SLC12A3

CAKUT

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)

Hyperoxaluria

Small panel (Sanger sequencing)

AGXT, HOGA1, GRHPR 
(3 genes, 3,2 kb)

Hereditary hypertension

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

Jeune syndrome

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)

Joubert Syndrom

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

Meckel-Gruber syndrome

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)

Nephrolithiasis/nephrocalcinosis

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

Nephronophthisis

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

Nephrotic syndrome/focal segmental glomerulosclerosis

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

Kidney tumours

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

Phosphate diabetes

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)

Polycystic kidney disease

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

Renal amyloidosis

Small panel (#209)

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

Renale tubular acidosis

Small panel (#188)

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

Renale tubular dysgenesis

Standard panel (Sanger sequencing)

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

Full panel - kidney diseases

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

Single genes

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)

Contact

Assistant Prof. Dr. Bodo Beck
Telephone +49 221 478-86824
Email bodo.beck@uk-koeln.de

Dr. Florian Erger
Telephone +49 221 478-86828
Email florian.erger@uk-koeln.de

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Kidney diseases
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