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Nierenerkrankungen

Ansprechpartner für klinische Fragen: Dr. med. B. Beck (0221-478-86824, [Email protection active, please enable JavaScript.]) oder Florian Erger (0221-478-86828, [Email protection active, please enable JavaScript.]). Den Anforderungsschein für die Paneldiagnostik zu Nierenerkrankungen finden Sie hier.

 

Gesamtpanel Nierenerkrankungen

 

aHUS

kleines Panel (#47)
ADAMTS13, C3, CD46, CFB, CFH, CFI, DGKE, MMACHC, THBD

(9 Gene, 24,7 kb)

großes Panel (#48)
ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, MMACHC, THBD

(14 Gene, 27 kb)

 

Alport Syndrom

kleines Panel (#33)
COL4A3, COL4A4, COL4A5

(3 Gene, 15,1kb)

großes Panel (#34)
COL4A3, COL4A4, COL4A5, MYH9, COL4A1

(5 Gene, 26 kb)

 

Bardet-Biedl Syndrom

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

(14 Gene, 24,2 kb)

großes 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 Gene, 42 kb)

 

Bartter+Gitelman Syndrom

kleines Panel (#42)
BSND, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3

(7 Gene, 14,5 kb)

 

CAKUT

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

(12 Gene, 24,4kb)

großes Panel (#72)
BICC1, BMP4, BMP7, CDC5L, CHD1L, CHRM3, DSTYK, EYA1, FGF20, FRAS1, FREM1, FREM2, GATA3, GLIS3, GREM1, GRIP1, HNF1B, HPSE2, ITGA8, JAG1, KAL1/ANOS1, KAT6B, LIFR, LRIG2, LRP4, MUC1, NOTCH2, NRIP1, PAX2, RAD51C, RET, ROBO2, SALL1, SALL4, SIX1, SIX2, SIX5, SOX17, STRA6,TBC1D1,TBC1D24, TBX18, TNXB, TRAP1, UMOD, UPK3A, WNT4, WT1

(48 Gene, 144,5 kb)

 

Hyperoxalurie

kleines Panel (Sanger Sequenzierung)
AGXT, HOGA1, GRHPR

(3 Gene, 3,2 kb)

 

Hypertonus

kleines Panel (#43)

CUL3, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C2, PDE3A, SCNN1A, SCNN1B, SCNN1G, WNK4

(11 Gene, 24,1 kb)

Long-Range PCR: CYP11B1-CYP11B2 Fusionsgen (Fam. Hyperaldosteronismus Typ I)

großes Panel (#44):
CACNA1D, CACNA1H, CUL3, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C2, PDE3A, RMND1, SCNN1A, SCNN1B, SCNN1G, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, WNK1, WNK4

(21 Gene, 51,2 kb)

Long-Range PCR: CYP11B1-CYP11B2 Fusionsgen (Fam. Hyperaldosteronismus Typ I)

 

Jeune Syndrom

kleines Panel (#40)
DYNC2H1, EVC, EVC2, IFT80, WDR34

(5 Gene, 23,8 kb)

großes Panel (#69)
CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60

(18 Gene, 66,7 kb)

 

Joubert Syndrom

kleines Panel (#024)
AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67

(8 Gene, 24,9 Kb)

MLPA: NPHP1

großes 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 Gene, 85,2 kb)

MLPA: NPHP1

Einzelgendiagnostik:

NPHP1*, NPHP3

 

Meckel-Gruber Syndrom

kleines Panel (#26)
CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67

(7 Gene, 23,1kb)

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

(12 Gene, 34,6 kb)

 

Nephrolithiasis/Nephrocalcinose

kleines Panel (#53)
AGXT, APRT, CASR, CLCN5, CYP24A1, GRHPR, HOGA1, SBDS, SLC2A9, SLC34A1, SLC36A2, SLC3A1, SLC7A9, SLC9A3R1, XDH

(15 Gene, 25,0 kb)

MLPA: AGXT, GRHPR, SLC3A1, SLC7A9

großes Panel (#74)
AGXT, APRT, CASR, CLCN5, CYP24A1, GCM2, GRHPR, GUCY2C, HOGA1, HPRT1, MOCOS, OCRL, PRPS1, PTH1R, SBDS, SLC2A9, SLC26A1, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A9, SLC9A3R1, XDH

(26 Gene, 46,2 kb)

MLPA: AGXT, GRHPR, SLC3A1, SLC7A9

 

Nephronophthise

kleines Panel (#31)
CEP290, IQCB1, NPHP1, NPHP3, NPHP4, TMEM67

(6 Gene, 22,7 kb)

MLPA: NPHP1

großes Panel (#70)
ANKS6, CEP164, CEP290, CEP83/CCDC41, DCDC2, FAN1, GLIS2, INVS/NPHP2, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, SLC41A1, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

(20 Gene, 62,6 kb)

MPLA: NPHP1

 

Nephrotisches Syndrom/fokal segmentale Glomerulosklerose

Kongenital/Infantil/Kindheit:

kleines Panel (#37)
CD2AP, COQ6, LAMB2, NPHS1, NPHS2, PLCE1, TRPC6, WT1

(8 Gene, 24,8 kb)

Juvenil/Adult:

kleines Panel (#38)
ACTN4, COL4A3, COL4A4, COL4A5, INF2, NPHS2, TRPC6

(7 Gene, 25,0 kb)

Nephrotisches Syndrom/fokal segmentale Glomerulosklerose, komplett:

großes Panel (#68)
ACTN4, ADCK4, ARHGAP24,  ALMS1, ANLN, APOA1, APOL1, ARHGDIA, CD2AP, 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, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SALL1, SCARB2, SEC61A1, SGPL1, SMARCAL1, TRPC6, WDR73, WT1, XPO5

(55 Gene, 64,3 kb)

 

Nierentumoren

kleines Panel (#45)
CDKN1B, DIS3L2, FH, FLCN, HRAS, MET, TSC1, TSC2, VHL, WT1

(10 Gene, 24,3 kb)

großes Panel (#46)
CDKN1B, DICER1, DIS3L2, FH, FLCN, HNF1A, HRAS, MET, NF1, NF2, PIK3CA, TSC1, TSC2, VHL, WT1

(16 Gene, 44 kb)

 

Phosphatdiabetes

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

(13 Gene, 24,5 kb)

großes 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 Gene, 39,3 kb)

 

Polyzystische Nierenerkrankung

dominanter Erbgang:

kleines Panel (#49)
EYA1, HNF1B, OFD1, PAX2, PKD1, PKD2

(6 Gene, 23,6 kb)

MLPA: PKD1, PKD2

rezessiver Erbgang:

kleines Panel (#50)
PKHD1, OFD1

(2 Gene, 15,2 kb)

Tubulointerstitielle Nephropathie:

kleines Panel (#51)
FAN1, HNF1B, MUC1, PAX2, REN, UMOD

(6 Gene, 6,9 kb)

Polyzystische Nierenerkrankung, komplett:

großes Panel (#73)
BMP4, CHD1L, EYA1, FRAS1, GANAB, HNF1B, LRP5, MUC1, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, RAD51C, REN, RET, SEC63, TMEM260, TSC1, TSC2, UMOD

(23 Gene, 85,9 kb)

MLPA: PKD1, PKD2

 

Renale tubuläre Azidose

kleines Panel (#30)
ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4, VPS33B

(6 Gene, 12,5 kb)

 

Renale tubuläre Dysgenesie

standard Panel (Sanger Sequenzierung)
ACE, AGT, AGTR1, REN

(4 Gene, 7,8 kb)

 

Gesamtpanel Nierenerkrankungen

großes Panel (#67)

Alle Gene des Panels (411 Gene, 1014,8 kb)

 

Einzelgene

ACE (3,9kb), ACTN4 (2,7kb), ADAMTS13 (4,3kb), ADCK4 (1,6kb), AGT (1,5kb), AGTR1 (1,2kb), AGXT (1,2kb), AQP2 (0,8kb), ARHGDIA (0,6kb), BBS10 (2,2kb), C3 (5kb), CASR (3,2kb), CD46 (1,2kb), CFB (2,3kb), CFH (3,7kb), CFI (1,8kb), CLCN5 (2,2kb), COL4A3 (5kb), COL4A4 (5,1kb), COL4A5 (5,1kb), COQ2 (1,3kb), COQ6 (1,4kb), CRB2 (3,9kb), CYP24A1 (1,5kb), DGKE (1,7kb), DIS3L2 (2,7kb), FAN1 (3,1kb), FLCN (1,7kb), GANAB (2,9kb), GRHPR (1kb), HNF1B (1,7kb), HOGA1 (1kb), INF2 (3,8kb), 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), WT1 (1,6kb)