(0621) 42286-0
(0621) 42286-88

Multigen-Diagnostik

Carrier-Screening

Panel-Nummer: ID350.00

Gene (625)

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

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.

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.

Diagnostik

Gen-Panel: ID350.00, 625 Gene (1591,4 kb)

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

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen

Versand

Post oder hauseigener Fahrdienst

Kosten

Die Untersuchung ist ausschließlich auf Selbstzahler-Basis für gesetzlich Versicherte oder für privatversicherte Patienten als Privatleistung (Gebührenstellung nach GOÄ) verfügbar.  

 


Stand: 25.05.2022