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| Indikation |
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| Material | |
| Klinische Fragestellung | Carrier Screening, Kinderwunsch |
| Gene | ABCB11 ABCC8 ABCD1 ACADM ACADVL ACOX1 ACSF3 ADGRG1 AGA AGL AGPS AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT ARSA ARSB ARX ASNS ASPA ASS1 ATM ATP7A ATP7B ATR ATRX BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BTD CAPN3 CBS CEP290 CERKL CFTR CHRNE CLN5 CLN6 CLN8 CLRN1 CNGB3 COL27A1 CPS1 CPT1A CPT2 CTNS CYBA CYP11B1 CYP11B2 CYP21A2 CYP27A1 DBT DCLRE1C DDB2 DHCR7 DKC1 DLD DMD DNAH5 DNAI1 DNAI2 DYSF EIF2B5 ELP1 EMD ERCC6 ERCC8 ESCO2 ETFA ETFDH ETHE1 EVC EVC2 EYS F11 F5 F8 F9 FAH FAM161A FANCA FANCB FANCC FANCG FH FKRP FKTN FMR1 G6PC1 G6PD GAA GALC GALK1 GALT GAMT GBA GBE1 GCDH GFM1 GJB1 GJB2 GLA GLB1 GLDC GLE1 GNE GNPTAB GP1BA HAX1 HBA1 HBA2 HBB HEXA HEXB HFE HGD HGSNAT HLCS HMGCL HPS1 HPS3 HYLS1 IDUA IVD L1CAM LAMA2 LDLR LIFR LIPA LRPPRC MCOLN1 MED17 MEFV MESP2 MKS1 MLC1 MPI MPL MPV17 MTM1 MTRR MVK NAGA NDUFS6 NEB NPC1 NPC2 NPHS1 OAT OPA3 OTC PAH PC PCCA PCCB PCDH15 PDHB PEX1 PEX6 PEX7 PFKM PHGDH PKHD1 PMM2 POMGNT1 PPT1 PRF1 PROP1 PSAP PTS PYGM RAB23 RAPSN RARS2 RNASEH2B RPE65 RPGRIP1L RS1 RTEL1 SACS SCO2 SEPSECS SERPINA SGCA SGCB SGCG SLC12A3 SLC12A6 SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC26A2 SLC26A4 SLC37A4 SMARCAL1 SMPD1 TCIRG1 TECPR2 TH TMEM216 TPP1 TRMU TSFM TYMP USH2A VPS13B VRK1 WRN XPA XPC ZFYVE26 |
| Methode | Next Generation Sequencing. NGS |