Nierenerkrankungen
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
Kleines Panel (#33)
COL4A3, COL4A4, COL4A5
(3 Gene, 15,1kb)
Großes Panel (#34)
COL4A3, COL4A4, COL4A5, MYH9, COL4A1
(5 Gene, 26 kb)
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)
Kleines Panel (#42)
BSND, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3
(7 Gene, 14,5 kb)
MLPA:
SLC12A3
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)
Kleines Panel (Sanger Sequenzierung)
AGXT, HOGA1, GRHPR
(3 Gene, 3,2 kb)
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
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)
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
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)
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
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
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
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
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)
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
Kleines Panel (#209)
APOA1, APOA2, APOC2, APOC3, APP, B2M, CST3, FGA, GSN, LYZ, MEFV, MVK, NLRP3, TTR
(14 Gene, 16,6 kb)
Kleines Panel (#188)
ATP6V0A4, ATP6V1B1, CA2, FOXI1, SLC4A1, SLC4A4, VPS33B
(7 Gene, 13,6 kb)
Standard-Panel (Sanger-Sequenzierung)
ACE, AGT, AGTR1, REN
(4 Gene, 7,8 kb)
Großes Panel (#67)
Alle Gene des Panels (411 Gene, 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)
