AAAS | ABCA12 | ABCA3 | ABCA4 | ABCB11 |
ABCC8 | ABCD1 | ACAD9 | ACADM | ACADS |
ACADSB | ACADVL | ACAT1 | ACE | ACOX1 |
ACSF3 | ADA | ADAMTS13 | ADAMTS2 | ADGRG1 |
ADGRV1 | AFF2 | AGA | AGL | AGPS |
AGT | AGTR1 | AGXT | AHI1 | AIRE |
AKR1D1 | ALDH3A2 | ALDH5A1 | ALDH7A1 | ALDOB |
ALG1 | ALG6 | ALMS1 | ALPL | ALS2 |
AMACR | AMH | AMHR2 | AMT | ANK1 |
ANO10 | ANTXR2 | APTX | AQP2 | ARG1 |
ARSA | ARSB | ARSL | ARX | ASL |
ASNS | ASPA | ASS1 | ATIC | ATM |
ATP6V0A2 | ATP6V1B1 | ATP7A | ATP7B | ATP8B1 |
ATR | ATRX | AUH | AVPR2 | B4GALT1 |
BBS1 | BBS10 | BBS12 | BBS2 | BCHE |
BCKDHA | BCKDHB | BCS1L | BLM | BRIP1 |
BSND | BTD | BTK | CA2 | CAPN3 |
CASR | CBS | CC2D2A | CCDC88C | CD3D |
CD3E | CD40LG | CDH23 | CEP290 | CERKL |
CFP | CFTR | CHM | CHRNA1 | CHRND |
CHRNE | CHRNG | CIITA | CLCN1 | CLDN1 |
CLDN19 | CLN3 | CLN5 | CLN6 | CLN8 |
CLRN1 | CNGB3 | COL11A2 | COL17A1 | COL1A2 |
COL27A1 | COL4A3 | COL4A4 | COL4A5 | COL7A1 |
COQ2 | COQ8A | CPS1 | CPT1A | CPT2 |
CRB1 | CRLF1 | CRTAP | CSTB | CTNS |
CTSC | CTSD | CTSK | CYBA | CYBB |
CYP11A1 | CYP11B1 | CYP11B2 | CYP17A1 | CYP19A1 |
CYP1B1 | CYP27A1 | CYP27B1 | D2HGDH | DBT |
DCLRE1C | DCX | DDB2 | DDC | DGUOK |
DHCR24 | DHCR7 | DHDDS | DKC1 | DLD |
DLL3 | DMD | DMP1 | DNAH5 | DNAI1 |
DNAI2 | DNAJC19 | DNMT3B | DOK7 | DOLK |
DPAGT1 | DPM1 | DPYD | DSP | DUOX2 |
DUOXA2 | DYNC2H1 | DYSF | EDA | EDN3 |
EDNRB | EFEMP2 | EGR2 | EIF2AK3 | EIF2B5 |
ELP1 | EMD | ENPP1 | EPB42 | EPM2A |
ERBB3 | ERCC2 | ERCC3 | ERCC4 | ERCC5 |
ERCC6 | ERCC8 | ESCO2 | ETFA | ETFB |
ETFDH | ETHE1 | EVC | EVC2 | EXOSC3 |
EYS | F11 | F8 | F9 | FAH |
FAM126A | FAM161A | FAM20C | FANCA | FANCB |
FANCC | FANCG | FBLN5 | FBP1 | FGA |
FGB | FGD4 | FGG | FH | FKRP |
FKTN | FLNA | FMO3 | FOLR1 | FOXN1 |
FOXP3 | FRAS1 | FREM2 | FUCA1 | FXN |
G6PC1 | G6PC3 | G6PD | GAA | GALC |
GALE | GALK1 | GALNS | GALT | GAMT |
GATA1 | GATM | GBA | GBE1 | GCDH |
GCH1 | GCK | GCSH | GDF5 | GFM1 |
GJA1 | GJB1 | GJB2 | GJC2 | GLA |
GLB1 | GLDC | GLE1 | GLI3 | GNE |
GNPTAB | GNPTG | GNS | GP1BA | GP9 |
GRHPR | GRIP1 | GSS | GTF2H5 | GUCY2D |
GUSB | GYS2 | HADH | HADHA | HADHB |
HAMP | HAX1 | HBB | HESX1 | HEXA |
HEXB | HGD | HGSNAT | HIBCH | HJV |
HLCS | HMGCL | HMGCS2 | HOGA1 | HPD |
HPRT1 | HPS1 | HPS3 | HPS4 | HSD17B10 |
HSD17B3 | HSD17B4 | HSD3B2 | HSD3B7 | HSPG2 |
HYAL1 | HYLS1 | IDS | IDUA | IGBP1 |
IGF1 | IGHMBP2 | IGSF1 | IL2RG | IL7R |
INPP5E | INS | INSR | INVS | IQCB1 |
ITGA6 | ITGB4 | IVD | IYD | JAG1 |
JAK3 | KCNJ1 | KCNJ11 | KCNQ1 | KCNQ2 |
KCTD7 | L1CAM | LAMA2 | LAMA3 | LAMB2 |
LAMB3 | LAMC2 | LARGE1 | LBR | LCA5 |
LDLR | LDLRAP1 | LHCGR | LHX3 | LIFR |
LIPA | LMBRD1 | LMNA | LOXHD1 | LPL |
LRP2 | LRP5 | LRPPRC | LYST | MAN2B1 |
MAT1A | MCCC1 | MCCC2 | MCEE | MCOLN1 |
MCPH1 | MED12 | MED17 | MEFV | MESP2 |
MFSD8 | MGAT2 | MID1 | MKS1 | MLC1 |
MLYCD | MMAA | MMAB | MMACHC | MMADHC |
MMUT | MOCS1 | MOCS2 | MOGS | MPI |
MPL | MPV17 | MPZ | MRPS16 | MRPS22 |
MTHFR | MTM1 | MTR | MTRR | MTTP |
MUTYH | MVK | MYO15A | MYO5A | MYO7A |
NAGA | NAGLU | NAGS | NBN | NDP |
NDRG1 | NDUFAF5 | NDUFS6 | NEU1 | NEUROG3 |
NHLRC1 | NPC1 | NPC2 | NPHP1 | NPHP3 |
NPHP4 | NPHS1 | NPHS2 | NR0B1 | NR2E3 |
NTRK1 | NUP62 | OAT | OCA2 | OCRL |
OFD1 | OPA3 | OSTM1 | OTC | P3H1 |
PAH | PAX6 | PAX8 | PC | PCBD1 |
PCCA | PCCB | PCDH15 | PDHA1 | PDHB |
PDHX | PDP1 | PDSS1 | PDSS2 | PEX1 |
PEX10 | PEX2 | PEX6 | PEX7 | PFKM |
PHGDH | PHKB | PKHD1 | PKLR | PLA2G6 |
PLCE1 | PLEC | PLEKHG5 | PLG | PLOD1 |
PLP1 | PMM2 | PMP22 | PNPO | POLG |
POMGNT1 | POMT1 | POMT2 | POR | POU1F1 |
PPT1 | PQBP1 | PREPL | PRF1 | PROC |
PROP1 | PRPS1 | PRRT2 | PRX | PSAP |
PSAT1 | PTH1R | PTPRC | PTS | PUS1 |
PYGL | PYGM | QDPR | RAB23 | RAB27A |
RAB3GAP1 | RAB3GAP2 | RAG1 | RAG2 | RAPSN |
RARS2 | RB1 | RDH12 | RELN | REN |
RLBP1 | RNASEH2B | RPE65 | RPGR | RPGRIP1L |
RS1 | RTEL1 | SACS | SAMHD1 | SBDS |
SC5D | SCN2A | SCN8A | SCNN1A | SCNN1B |
SCNN1G | SCO2 | SEPSECS | SERPINA1 | SFTPB |
SFTPC | SGCA | SGCB | SGCD | SGCG |
SGSH | SH2D1A | SIL1 | SLC12A1 | SLC12A3 |
SLC12A6 | SLC16A1 | SLC16A2 | SLC17A5 | SLC19A3 |
SLC22A5 | SLC25A13 | SLC25A15 | SLC25A20 | SLC25A22 |
SLC26A2 | SLC26A3 | SLC26A4 | SLC2A1 | SLC34A2 |
SLC35A1 | SLC35A3 | SLC35C1 | SLC35D1 | SLC37A4 |
SLC39A4 | SLC3A1 | SLC45A2 | SLC4A1 | SLC4A11 |
SLC5A5 | SLC6A8 | SLC7A7 | SLC7A9 | SLC9A6 |
SMARCAL1 | SMPD1 | SNAP29 | SP110 | SPR |
SRD5A2 | ST3GAL5 | STAR | STRA6 | SUCLG1 |
SUMF1 | SUOX | TAFAZZIN | TAT | TBCE |
TCIRG1 | TECPR2 | TF | TFR2 | TG |
TGM1 | TH | TIMM8A | TK2 | TMEM216 |
TMEM67 | TNFRSF11B | TNNT1 | TPO | TPP1 |
TREX1 | TRHR | TRIM32 | TRIM37 | TRMU |
TSEN54 | TSHB | TSHR | TSPYL1 | TTC37 |
TTN | TTPA | TWNK | TYMP | TYR |
TYRP1 | UBA1 | UBR1 | UGT1A1 | UQCRB |
UQCRQ | UROS | USH1C | USH1G | USH2A |
VDR | VLDLR | VPS13A | VPS13B | VPS33B |
VPS45 | VPS53 | VRK1 | VSX2 | WAS |
WNT10A | WNT3 | WNT7A | WRN | WT1 |
XPA | XPC | ZIC3 | ZMPSTE24 | ZNF469 |
Akkreditiertes Verfahren: ja
Download:Formulare zur Probeneinsendung
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.
Die Gene SMN1, FMR1, CYP21A2, NEB, IKBKB, HBA1, HBA2, TSFM und RMRP sind aus technischen Gründen nicht inkludiert. Falls die Familienanamnese oder andere Gründe eine Untersuchung dieser Gene sinnvoll machen, müssen sie gesondert angefordert werden.
AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACSF3, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, AFF2, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIRE, AKR1D1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALPL, ALS2, AMACR, AMH, AMHR2, AMT, ANK1, ANO10, ANTXR2, APTX, AQP2, ARG1, ARSA, ARSB, ARSL, ARX, ASL, ASNS, ASPA, ASS1, ATIC, ATM, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BRIP1, BSND, BTD, BTK, CA2, CAPN3, CASR, CBS, CC2D2A, CCDC88C, CD3D, CD3E, CD40LG, CDH23, CEP290, CERKL, CFP, CFTR, CHM, CHRNA1, CHRND, CHRNE, CHRNG, CIITA, CLCN1, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL11A2, COL17A1, COL1A2, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, COQ2, COQ8A, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CSTB, CTNS, CTSC, CTSD, CTSK, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP27A1, CYP27B1, D2HGDH, DBT, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DHDDS, DKC1, DLD, DLL3, DMD, DMP1, DNAH5, DNAI1, DNAI2, DNAJC19, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPYD, DSP, DUOX2, DUOXA2, DYNC2H1, DYSF, EDA, EDN3, EDNRB, EFEMP2, EGR2, EIF2AK3, EIF2B5, ELP1, EMD, ENPP1, EPB42, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F11, F8, F9, FAH, FAM126A, FAM161A, FAM20C, FANCA, FANCB, FANCC, FANCG, FBLN5, FBP1, FGA, FGB, FGD4, FGG, FH, FKRP, FKTN, FLNA, FMO3, FOLR1, FOXN1, FOXP3, FRAS1, FREM2, FUCA1, FXN, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDF5, GFM1, GJA1, GJB1, GJB2, GJC2, GLA, GLB1, GLDC, GLE1, GLI3, GNE, GNPTAB, GNPTG, GNS, GP1BA, GP9, GRHPR, GRIP1, GSS, GTF2H5, GUCY2D, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBB, HESX1, HEXA, HEXB, HGD, HGSNAT, HIBCH, HJV, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPG2, HYAL1, HYLS1, IDS, IDUA, IGBP1, IGF1, IGHMBP2, IGSF1, IL2RG, IL7R, INPP5E, INS, INSR, INVS, IQCB1, ITGA6, ITGB4, IVD, IYD, JAG1, JAK3, KCNJ1, KCNJ11, KCNQ1, KCNQ2, KCTD7, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LARGE1, LBR, LCA5, LDLR, LDLRAP1, LHCGR, LHX3, LIFR, LIPA, LMBRD1, LMNA, LOXHD1, LPL, LRP2, LRP5, LRPPRC, LYST, MAN2B1, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED12, MED17, MEFV, MESP2, MFSD8, MGAT2, MID1, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPI, MPL, MPV17, MPZ, MRPS16, MRPS22, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYO15A, MYO5A, MYO7A, NAGA, NAGLU, NAGS, NBN, NDP, NDRG1, NDUFAF5, NDUFS6, NEU1, NEUROG3, NHLRC1, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B1, NR2E3, NTRK1, NUP62, OAT, OCA2, OCRL, OFD1, OPA3, OSTM1, OTC, P3H1, PAH, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX2, PEX6, PEX7, PFKM, PHGDH, PHKB, PKHD1, PKLR, PLA2G6, PLCE1, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POMGNT1, POMT1, POMT2, POR, POU1F1, PPT1, PQBP1, PREPL, PRF1, PROC, PROP1, PRPS1, PRRT2, PRX, PSAP, PSAT1, PTH1R, PTPRC, PTS, PUS1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RARS2, RB1, RDH12, RELN, REN, RLBP1, RNASEH2B, RPE65, RPGR, RPGRIP1L, RS1, RTEL1, SACS, SAMHD1, SBDS, SC5D, SCN2A, SCN8A, SCNN1A, SCNN1B, SCNN1G, SCO2, SEPSECS, SERPINA1, SFTPB, SFTPC, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SIL1, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC26A3, SLC26A4, SLC2A1, SLC34A2, SLC35A1, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC4A1, SLC4A11, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMARCAL1, SMPD1, SNAP29, SP110, SPR, SRD5A2, ST3GAL5, STAR, STRA6, SUCLG1, SUMF1, SUOX, TAFAZZIN, TAT, TBCE, TCIRG1, TECPR2, TF, TFR2, TG, TGM1, TH, TIMM8A, TK2, TMEM216, TMEM67, TNFRSF11B, TNNT1, TPO, TPP1, TREX1, TRHR, TRIM32, TRIM37, TRMU, TSEN54, TSHB, TSHR, TSPYL1, TTC37, TTN, TTPA, TWNK, TYMP, TYR, TYRP1, UBA1, UBR1, UGT1A1, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VLDLR, VPS13A, VPS13B, VPS33B, VPS45, VPS53, VRK1, VSX2, WAS, WNT10A, WNT3, WNT7A, WRN, WT1, XPA, XPC, ZIC3, ZMPSTE24, ZNF469
3 - 5 ml EDTA-Blut
4 - 6 Wochen
Post oder hauseigener Fahrdienst
Die Untersuchung ist ausschließlich auf Selbstzahler-Basis für gesetzlich Versicherte oder für privatversicherte Patienten als Privatleistung (Gebührenstellung nach GOÄ) verfügbar.
Stand: 25.05.2022