Indikation |
|
Material | |
Klinische Fragestellung | Hörstörung |
Gene | ABHD12 ABHD5 ACOX1 ACTG1 ADCY1 ADGRV1 AIFM1 ALMS1 ANLN ARSG ATP2B2 ATP6V1B1 BCS1L BSND BTD CABP2 CACNA1D CCDC50 CD151 CD164 CDC14A CDH23 CEACAM16 CEP250 CEP78 CHD7 CIB2 CISD2 CLDN14 CLIC5 CLPP CLRN1 COCH COL11A1 COL11A2 COL2A1 COL4A3 COL4A4 COL4A5 COL4A6 COL9A1 COL9A2 COL9A3 CRYM DCDC2 DIABLO DIAPH1 DIAPH3 DMXL2 DNMT1 DSPP EDN3 EDNRA EDNRB EFTUD2 ELMOD3 EPS8 EPS8L2 ESPN ESRRB EYA1 EYA4 FGF3 FGFR3 FOXC1 FOXI1 GATA3 GDF6 GIPC3 GJA1 GJB1 GJB2 GJB3 GJB6 GPSM2 GRHL2 GRXCR1 GRXCR2 GSDME HARS1 HARS2 HGF HOMER2 HSD17B4 ILDR1 JAG1 KARS1 KCNE1 KCNJ10 KCNQ1 KCNQ4 KITLG LARS2 LHFPL5 LHX3 LOXHD1 LOXL3 LRP2 LRTOMT MAN2B1 MARVELD2 MCM2 MEOX1 MET MITF MSRB3 MYH14 MYH7B MYH9 MYO15A MYO18B MYO3A MYO6 MYO7A NARS2 NDRG1 NF2 NLRP3 OPA1 OSBPL2 OTOA OTOF OTOG OTOGL P2RX2 PAX3 PCDH15 PCGF2 PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PJVK PMP22 PNPT1 POLR1C POLR1D POU3F4 POU4F3 PRPS1 RAI1 RDX RIPOR2 RMND1 ROR1 RPS6KA3 S1PR2 SERAC1 SERPINB6 SH3TC2 SIX1 SIX5 SLC12A2 SLC17A8 SLC22A4 SLC26A4 SLC26A5 SLC29A3 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLITRK6 SMPX SNAI2 SOX10 SYNE4 TBC1D24 TCOF1 TECTA TFAP2A TIMM8A TJP2 TMC1 TMEM132E TMIE TMPRSS3 TPRN TRIOBP TSPEAR TUBB4B TWNK UBR1 USH1C USH1G USH2A VCAN WBP2 WFS1 WHRN ZNF469 |
Methode | Next Generation Sequencing. NGS |
Material und Probennahme | 3-5ml EDTA Blut, Raumtemperatur |
Probentransport |
Fahrdienst oder Postweg. Für die Organisation von Probentransport, Abnahme- und Versandmaterialien wenden Sie sich bitte an den Client Service der Humangenetik, 069-53084370 oder cs@genetik.diangosticum.eu. |
Untersuchungsdauer | 4-10 Wochen |