Multigen-Diagnostik
Netzhauterkrankungen, umfassende Diagnostik
Panel-Nummer: ID383.01
Gene (302)
| ABCA4 | ABCC6 | ABHD12 | ACBD5 | ACO2 |
| ADAM9 | ADAMTS18 | ADGRV1 | AFG3L2 | AGBL5 |
| AHI1 | AHR | AIPL1 | AIRE | ALDH3A2 |
| ALMS1 | ALPK1 | AMACR | ARHGEF18 | ARL13B |
| ARL2BP | ARL3 | ARL6 | ARSG | ATF6 |
| ATOH7 | BBIP1 | BBS1 | BBS10 | BBS12 |
| BBS2 | BBS4 | BBS5 | BBS7 | BBS9 |
| BEST1 | C1QTNF5 | CABP4 | CACNA1F | CACNA2D4 |
| CAPN5 | CC2D2A | CDH23 | CDH3 | CDHR1 |
| CEP164 | CEP250 | CEP290 | CEP78 | CERKL |
| CFAP20 | CFAP410 | CFAP418 | CFH | CHM |
| CIB2 | CLCC1 | CLEC3B | CLN3 | CLN5 |
| CLN6 | CLN8 | CLRN1 | CNGA1 | CNGA3 |
| CNGB1 | CNGB3 | CNNM4 | COL11A1 | COL18A1 |
| COL2A1 | COL4A1 | COL9A1 | COL9A2 | COL9A3 |
| COQ2 | COQ8B | CRB1 | CRX | CSPP1 |
| CTC1 | CTNNA1 | CTNNB1 | CTNND1 | CTSD |
| CWC27 | CYP4V2 | DCT | DHDDS | DHX38 |
| DNAJC5 | DRAM2 | DYNC2H1 | EFEMP1 | ELOVL4 |
| ERCC6 | ERCC8 | ESPN | EXOSC2 | EYS |
| FAM161A | FDXR | FLVCR1 | FRMD7 | FSCN2 |
| FZD4 | GNAT1 | GNAT2 | GNB3 | GNPTG |
| GPR143 | GPR179 | GRK1 | GRM6 | GRN |
| GUCA1A | GUCA1B | GUCY2D | HARS1 | HCCS |
| HGSNAT | HK1 | HKDC1 | HMX1 | IDH3A |
| IDH3B | IFT140 | IFT172 | IFT27 | IFT43 |
| IFT74 | IMPDH1 | IMPG1 | IMPG2 | INPP5E |
| IQCB1 | KCNJ13 | KCNV2 | KIAA1549 | KIF3B |
| KIF11 | KIZ | KLHL7 | LAMA1 | LAMP2 |
| LCA5 | LRAT | LRIT3 | LRP2 | LRP5 |
| LZTFL1 | MAK | MAN2B1 | MAPKAPK3 | MCOLN1 |
| MED12 | MERTK | MFRP | MFSD8 | MKKS |
| MKS1 | MMACHC | MPDZ | MSTO1 | MTTP |
| MVK | MYO7A | NBAS | NDP | NEK2 |
| NEUROD1 | NMNAT1 | NPHP1 | NPHP3 | NPHP4 |
| NR2E3 | NRL | NYX | OAT | OFD1 |
| OPN1LW | OTX2 | P3H2 | PANK2 | PAX2 |
| PCARE | PCDH15 | PCYT1A | PDE6A | PDE6B |
| PDE6C | PDE6G | PDZD7 | PDE6H | PDSS1 |
| PEX1 | PEX2 | PEX6 | PEX7 | PHYH |
| PITPNM3 | PLA2G5 | PLK4 | PNPLA6 | POC1B |
| POMGNT1 | POMGNT2 | POMT1 | PPT1 | PRCD |
| PRDM13 | PROM1 | PRPF3 | PRPF31 | PRPF4 |
| PRPF6 | PRPF8 | PRPH2 | PRPS1 | PYGM |
| RAB28 | RAX2 | RBP3 | RBP4 | RCBTB1 |
| RD3 | RDH11 | RDH12 | RDH5 | REEP6 |
| RGR | RGS9 | RGS9BP | RHO | RIMS2 |
| RLBP1 | ROM1 | RP1 | RP1L1 | RP2 |
| RP9 | RPE65 | RPGR | RPGRIP1 | RPGRIP1L |
| RS1 | SAG | SAMD7 | SCAPER | SDCCAG8 |
| SEMA4A | SGSH | SLC24A1 | SLC38A8 | SLC6A6 |
| SLC7A14 | SNRNP200 | SPATA7 | SRD5A3 | SSBP1 |
| STN1 | STX3 | SUMF1 | TIMM8A | TIMP3 |
| TINF2 | TLCD3B | TMEM216 | TMEM218 | TMEM231 |
| TMEM237 | TMEM67 | TOPORS | TPP1 | TRAF3IP1 |
| TREX1 | TRIM32 | TRNT1 | TRPM1 | TSPAN12 |
| TTC8 | TTLL5 | TUB | TUBB4B | TUBGCP4 |
| TUBGCP6 | TULP1 | UNC119 | USH1C | USH1G |
| USH2A | USP45 | VCAN | VPS13B | VWA8 |
| WDPCP | WDR19 | WHRN | ZFYVE26 | ZNF408 |
| ZNF423 | ZNF513 |
Akkreditiertes Verfahren: ja
Download:Formulare zur Probeneinsendung
Methodik
Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).
Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.
Diagnostik
Gen-Panel: ID383.01, 302 Gene (761,8 kb)
ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, ALPK1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, ATOH7, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CIB2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, COQ8B, CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CYP4V2, DCT, DHDDS, DHX38, DNAJC5, DRAM2, DYNC2H1, EFEMP1, ELOVL4, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HGSNAT, HK1, HKDC1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF3B, KIF11, KIZ, KLHL7, LAMA1, LAMP2, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MAN2B1, MAPKAPK3, MCOLN1, MED12, MERTK, MFRP, MFSD8, MKKS, MKS1, MMACHC, MPDZ, MSTO1, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OTX2, P3H2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDZD7, PDE6H, PDSS1, PEX1, PEX2, PEX6, PEX7, PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, POMGNT2, POMT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SAMD7, SCAPER, SDCCAG8, SEMA4A, SGSH, SLC24A1, SLC38A8, SLC6A6, SLC7A14, SNRNP200, SPATA7, SRD5A3, SSBP1, STN1, STX3, SUMF1, TIMM8A, TIMP3, TINF2, TLCD3B, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, VWA8, WDPCP, WDR19, WHRN, ZFYVE26, ZNF408, ZNF423, ZNF513
* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar
Material
3 - 5 ml EDTA-Blut
Dauer
4 - 6 Wochen
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant.
Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
Stand: 29.07.2025