Nierenerkrankungen

aHUS

Kleines Panel (#148)
ADAMTS13, C3, CD46, CFB, CFH, CFHR5, CFI, DGKE, MMACHC, THBD (10 Gene, 24,2 kb)

Großes Panel (#191)
ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, SAMD9, SAMD9L, MMACHC, THBD (16 Gene, 36,5 kb)
MLPA: CD46, CFI

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)
MLPA: SLC12A3

CAKUT

Kleines Panel (#35)
BMP4, CHD1L, DSTYK, EYA1, GATA3, HNF1B, MUC1, PAX2, RET, ROBO2, SALL1, UMOD (12 Gene, 24,4kb)

Großes 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 Gene, 146,7 kb)

Hyperoxalurie

Kleines Panel (Sanger Sequenzierung)
AGXT, HOGA1, GRHPR (3 Gene, 3,2 kb)

Hereditärer 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 (#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 Gene, 60,7 kb)

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

MLPA: SDHAF2, SDHB, SDHC, SDHD

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

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, SLC2A9, SLC34A1, SLC36A2, SLC3A1, SLC7A9, SLC9A3R1, XDH (14 Gene, 24,3 kb)

Großes 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 Gene, 57,8 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 (#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 Gene, 68,3 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 (#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 Gene, 190,7 kb)

Kleines Panel (#106): Syndromale SRNS
ADCK4, ARHGDIA, GATA3, INF2, LMX1B, MAFB, MYH9, PAX2, PMM2, SCARB2, SMARCAL1, WDR73, WT1 (13 Gene, 24,4 kb)

MLPA: COL4A3, COL4A4, COL4A5, LMX1B, WT1

Nierentumore

Kleines Panel (#45)
CDKN1B, DIS3L2, FH, FLCN, HRAS, MET, TSC1, TSC2, VHL, WT1 (10 Gene, 22,4 kb)

Großes Panel (#121)
BUB1B, CDKN1B, DICER1, DIS3L2, FH, FLCN, HNF1A, HRAS, MAX, MET, NF1, NF2, PIK3CA, TRIP13, TSC1, TSC2, VHL, WT1 (18 Gene, 48,8 kb)

MLPA: FLCN, TSC1, TSC2, VHL, WT1, HNF1A

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 (#192)
1. PKD1, 2. DNAJB11, EYA1, HNF1B, OFD1, PAX2, PKD2 (7 Gene, 24,6 kb)

MLPA: PKD1, PKD2

Rezessiver Erbgang:

Kleines Panel (#247)
1. PKHD1, 2. DZIP1L, OFD1 (3 Gene, 17,5 kb)

Tubulointerstitielle Nephropathie:

Kleines Panel (#51)
FAN1, HNF1B, MUC1, PAX2, REN, UMOD (6 Gene, 6,9 kb)

Polyzystische Nierenerkrankung, komplett:

Großes 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 Gene, 89,2 kb)

MLPA: HNF1B, PKD1, PKD2, TSC1, TSC2

Renale Amyloidose

Kleines Panel (#209)
APOA1, APOA2, APOC2, APOC3, APP, B2M, CST3, FGA, GSN, LYZ, MEFV, MVK, NLRP3, TTR (14 Gene, 16,6 kb)

Renale tubuläre Azidose

Kleines Panel (#188)
ATP6V0A4, ATP6V1B1, CA2, FOXI1, SLC4A1, SLC4A4, VPS33B (7 Gene, 13,6 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), 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)

Anforderungsschein

Nierenerkrankungen
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