Die Niere ist ein lebensnotwendiges Organ für die Entgiftung und Regulation des Blut- und Elektrolythaushalts. Erbliche Nierenerkrankungen können Kinder und Erwachsene betreffen und bleiben nicht selten über einen längeren Zeitraum „klinisch stumm“, bevor es zu einer Niereninsuffizienz kommen kann. Eine möglichst frühzeitige Diagnosestellung kann somit wichtig für den Erhalt der Nierenfunktion sein. Bekannte Beispiele sind syndromale Ziliopathien, polyzystische Nierenerkrankungen, das X-chromosomal erbliche Alport-Syndrom mit Schwerhörigkeit sowie die autosomal-rezessiv vererbte Zystinurie.
Empfohlene Panels
Gen-Panel: Nieren
ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ADAMTS13, ADAMTS9, ADCK4≙COQ8B, ADCY10, ADCY3, ADGRV1≙GPR98, AGK, AGPAT2, AGT, AGTR1, AGXT, AHI1, AIPL1, ALDH1A2, ALG1, ALG8, ALG9, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA2, APOC2, APOC3, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATP7B, ATXN10, AVP, AVPR2, B2M, B9D1, B9D2, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BNC2, BRCA2, BSND, C11ORF70, C1QA, C1QB, C1QC, C21ORF2, C21ORF59, C2CD3, C2ORF71, C3, C5ORF42, C8ORF37, CA2, CABP4, CACNA1H, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CD151, CD2AP, CD46, CDC5L, CDC73, CDH23, CDKN1C, CDKN2B, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP43, CFAP44, CFAP46, CFAP53, CFAP54, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CIB2, CITED2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CLPB, CLRN1, CLU, CNNM2, CNNM4, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COX10, CRB1, CRB2, CRELD1, CRX, CSPP1, CST3, CTNS, CTU2, CUBN, CUL3, CUL4B, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP27B1, CYP2R1, DAAM2, DACH1, DACT1, DCDC2, DDX59, DFNB31, DGKE, DHCR7, DHFR, DICER1, DIS3L2, DLC1, DLG3, DLG5, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DNHD1, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DYRK1B, DYX1C1, DZIP1L, E2F3, EGF, EHHADH, EMP2, ENPP1, EPCAM, ETFA, EVC, EVC2, EXOC3L2, EXOC8, EYA1, FAH, FAM111A, FAM20A, FAN1, FANCB, FAT1, FBXW7, FGA, FGF20, FGF23, FH, FIBP, FLCN, FN1, FOXC1, FOXC2, FOXH1, FOXI1, FRAS1, FREM1, FREM2, FXYD2, GANAB, GAS2L2, GAS8, GATA2, GATA3, GATM, GDF1, GDF6, GDNF, GIF, GLA, GLI2, GLI3, GLIS2, GNA11, GNAS, GON7, GPC3, GPHN, GREB1L, GREM1, GRHPR, GRIP1, GSN, GUCY2D, HAAO, HCN3, DNAAF5≙HEATR2, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HS2ST1, HSD11B2, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT20, IFT22, IFT27, IFT43, IFT46, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IMPDH1, INF2, INPP5E, INSR, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, JAG1, KANK1, KANK2, KANK4, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KIRREL1, KIT, KL, KLHL3, KMT2D, KSR2, KYNU, LAGE3, LAMA5, LAMB2, LBR, LCA5, LCAT, LEFTY2, LEP, LEPR, LIFR, LMNA, LMOD1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LRRC56, LRRC6, LYZ, LZTFL1, MAFB, MAGED2, MAGEL2, MAGI2, MAGT1, MAPKBP1, MC3R, MC4R, MCIDAS, MET, MITF, MKKS, MKS1, MLH1, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MSH2, MSH6, MTR, MTRR, MTX2, MUC1, MUT, MYH11, MYH9, MYL9, MYLK, MYO1E, MYO7A, MYOCD, NADSYN1, NEK1, NEK8, NFKB1, NFKB2, NIPA2, NIPBL, NKX2-5, NLRP3, NME8, NMNAT1, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B2, NR3C1, NR3C2, NTRK2, NUP107, NUP133, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, ORMDL3, OSGEP, OSR1, OTX2, PAX2, PBX1, PCBD1, PCDH15, PCSK1, PDE6D, PDIA6, PDPR, PDSS2, PDZD7, PHEX, PHF6, PIBF1, PIGA, PIH1D3, PIK3CD, PIK3R1, PKD1, PKD2, PKHD1, PLCE1, PLG, PLVAP, PMM2, PMS2, PNPLA6, POC1A, POC1B, PODXL, POMC, POU6F2, PPARG, PRKCSH, PRPH2, PRPS1, PTEN, PTPRO, PUF60, PXDN, RAG1, RAG2, RD3, RDH12, REN, REST, RET, ROBO2, ROM1, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SBDS, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHB, SDHC, SDHD, SEC61A1, SEC63, SGPL1, SHH, SIM1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC19A2, SLC19A3, SLC1A1, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SMARCB1, SOX17, SPAG1, SPAG17, SPATA7, SPRY1, SRGAP1, STK36, STRA6, STRADA, SUFU, SYNPO, TAPT1, TBC1D1, TBC1D32, TBC1D8B, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TNS2, TNS3, TNXB, TOPORS, TP53, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRIM8, TRPC6, TRPM6, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC25, TTC8, TTR, TULP1, TXNDC15, UCP3, UMOD, UPF3B, UPK2, UPK3A, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WBP11, WDPCP, WDR19, WDR34, WDR35, WDR4, WDR60, WDR63, WDR72, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, YRDC, ZIC3, ZMPSTE24, ZMYM2, ZMYND10, ZNF365, ZNF423, ZSWIM6
Gen-Panel: Ziliopathien
ACVR2B, ADGRV1, AGPAT2, AHI1, AIPL1, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP164, CEP290, CEP41, CEP55, CFTR, CLRN1, CRB1, CRELD1, CRX, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, HYDIN, HYLS1, IFT43, IFT80, IMPDH1, INVS, IQCB1, KCNJ13, KIF7, LCA5, LEFTY2, LRAT, LRRC56, LRRC6, LZTFL1, MCIDAS, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PIH1D3, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423
Material
- EDTA-Blut (1-4 ml)
- Mundschleimhautabstrich
Termin zur genetische Beratung
Organisatorischer Ablauf
Ansprechpartner | Frau Dr. rer. nat. Daniela Köhler |
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089 - 130 744 408
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Sekretariat / Abrechnung
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