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Hereditary kidney disorders
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Hereditary kidney disorders

For any questions regarding clinical issues, please get in contact with Dr. B. Beck, MD (+49-221-478-86824, [Email protection active, please enable JavaScript.])  or Florian Erger (+49-221-478-86828, [Email protection active, please enable JavaScript.]). The panel diagnostics request form (German) for hereditary kidney diseases is available here.

 

Complete panel kidney disorders

 

Atypical hemolytic-uremic syndrome/ aHUS

standard panel (#148)
ADAMTS13, C3, CD46, CFB, CFH, CFHR5, CFI, DGKE, MMACHC, THBD

(10 genes, 24,2 kb)

complete 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

standard panel (#33)
COL4A3, COL4A4, COL4A5

(3 genes, 15,1kb)

complete panel (#34)
COL4A3, COL4A4, COL4A5, MYH9, COL4A1

(5 genes, 26 kb)

 

Bardet-Biedl syndrome

standard panel (#28)
ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8

(14 genes, 24,2 kb)

complete 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

standard panel (#42)
BSND, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3

(7 genes, 14,5 kb)

 MLPA: SLC12A3

 

CAKUT

standard panel (#35)
BMP4, CHD1L, DSTYK, EYA1, GATA3, HNF1B, MUC1, PAX2, RET, ROBO2, SALL1, UMOD

(12 genes, 24,4kb)

complete 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)

 

Primary hyperoxaluria

standard panel (Sanger sequencing)
AGXT, HOGA1, GRHPR

(3 genes, 3,2 kb)

 

Hereditary hypertension

standard 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 (familial hyperaldosteronism type I)

complete 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 (familial hyperaldosteronism type I)

 MLPA: SDHAF2, SDHB, SDHC, SDHD

 

Jeune syndrome

standard panel (#40)
DYNC2H1, EVC, EVC2, IFT80, WDR34

(5 genes, 23,8 kb)

complete 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 syndrome

standard panel (#024)
AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67

(8 genes, 24,9 Kb)

MLPA: NPHP1

complete 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

standard panel (#26)
CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67

(7 genes, 23,1kb)

complete panel (#27)
B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67

(12 genes, 34,6 kb)

 

Nephrolithiasis/Nephrocalcinosis

standard panel (#53)
AGXT, APRT, CASR, CLCN5, CYP24A1, GRHPR, HOGA1, SLC2A9, SLC34A1, SLC36A2, SLC3A1, SLC7A9, SLC9A3R1, XDH

(14 genes, 24,3 kb)

complete 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

standard panel (#31)
CEP290, IQCB1, NPHP1, NPHP3, NPHP4, TMEM67

(6 genes, 22,7 kb)

MLPA: NPHP1

complete 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:

standard panel (#37)
CD2AP, COQ6, LAMB2, NPHS1, NPHS2, PLCE1, TRPC6, WT1

(8 genes, 24,8 kb)

juvenile/ adult:

standard panel (#38)
ACTN4, COL4A3, COL4A4, COL4A5, INF2, NPHS2, TRPC6

(7 genes, 25,0 kb)

Nephrotic syndrome/ focal segmental glomerulosclerosis, complete:

complete 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)

standard panel (#106): Syndromal 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 tumors

standard panel (#45)
CDKN1B, DIS3L2, FH, FLCN, HRAS, MET, TSC1, TSC2, VHL, WT1

(10 genes, 22,4 kb)

complete 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

 

Hereditary hypophosphatemia

standard panel (#75)
ATP7B, CASR, CDC73, CLCN5, COX10, FGF23, HNF4A, HRAS, OCRL, PHEX, SLC2A2, SLC34A1, SLC9A3R1

(13 genes, 24,5 kb)

complete 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:

standard panel (#192)
1. PKD1, 2. DNAJB11, EYA1, HNF1B, OFD1, PAX2, PKD2

(7 genes, 24,6 kb)

MLPA: PKD1, PKD2

recessive inheritance:

standard panel (#247)
1. PKHD1, 2. DZIP1L, OFD1

(3 genes, 17,5 kb)

tubulointerstitial nephropathy:

standard panel (#51)
FAN1, HNF1B, MUC1, PAX2, REN, UMOD

(6 genes, 6,9 kb)

Polycystic kidney disease, complete:

complete 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

standard panel (#209)
APOA1, APOA2, APOC2, APOC3, APP, B2M, CST3, FGA, GSN, LYZ, MEFV, MVK, NLRP3, TTR

(14 genes, 16,6 kb)

 

Renal tubular acidosis

standard panel (#188)
ATP6V0A4, ATP6V1B1, CA2, FOXI1, SLC4A1, SLC4A4, VPS33B

(7 genes, 13,6 kb)

 

Renal tubular dysgenesis

standard panel (Sanger sequencing)
ACE, AGT, AGTR1, REN

(4 genes, 7,8 kb)

 

Complete panel kidney disorders

complete panel (#67)

(411 genes, 1014,8 kb)

 

Single genes

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