Multigen-Diagnostik

Panel-Nummer: ID027.03

Gene (147)

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 ID027.03

Kardiomyopathien, umfassende Diagnostik: 147 Gene (467,6 kb)

ABCC9, ACTA1*, ACTC1*, ACTN2*, ALPK3, ANKRD1, APOA1*, B2M, BAG3*^,**, BAG5, BRAF*^,**, CACNA1C*, CACNB2*, CALR3, CAP2, CASQ2*, CAV3*^,**, CDH2, COA5, COA6, CORIN, COX15, CRYAB, CSRP3, CTF1, CTNNA3, DES*, DMD*^,**, DMPK, DNAJC19, DOLK, DPM3, DSC2*^,**, DSG2*^,**, DSP*^,**, DTNA, EMD*, EYA4, FGA, FHL1*, FHL2*, FHOD3, FKRP*, FKTN, FLII, FLNC*, FTH1*, FXN, GAA*^,**, GATA4*, GATAD1, GET3, GLA*^,**, GSN*, HADHA, HAMP*^,**, HCN4*, HFE*^,**, HJV*^,**, HRAS*^,**, ILK*, JPH2*, JUP*^,**, KCNQ1*^,**, KIF20A, KLF10, KLHL24, KRAS*^,**, LAMA4, LAMP2*, LDB3, LIMS2, LMNA*^,**, LMOD2, LRRC10, LYZ, LZTR1*^,**, MAP2K1*, MAP2K2*, MAPK1, MIB1, MRAS*, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYOM1, MYOZ2, MYPN*, NEBL, NEXN*, NKX2-5*, NNT*, NONO, NPPA, NRAS*^,**, OBSCN, PDLIM3, PKP2*^,**, PLEKHM2, PLN, PPCS, PRDM16*, PRKAG2*, PSEN1, PSEN2, PTPN11*, RAF1*, RBM20*, RIT1*, RPL3L, RRAS2, RYR2*^,**, SCN5A*^,**, SCO2, SDHA*, SGCD, SHOC2*, SLC40A1*^,**, SLC25A4, SOS1*, SOS2*, SPRED2, SYNE1, SYNE2, TAFAZZIN*, TBX5, TBX20*, TCAP, TFR2*^,**, TGFB3*^,**, TJP1, TMEM43*, TMEM70, TMPO*, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TRIM63, TTN, TTR*, VCL*, VEZF1

Dilatative Kardiomyopathie (DCM, CMD): 66 Gene (273,7 kb)

ABCC9, ACTC1*, ACTN2*, ANKRD1, BAG3*^,**, BAG5, CAP2, CRYAB, CSRP3*, CTF1, DES*, DMD*^,**, DSG2*^,**, DSP*^,**, DTNA, EYA4, FKTN*, FLII, FLNC, GATAD1, GET3, ILK*, JPH2*, LAMA4, LDB3, LMNA*^,**, LMOD2, LRRC10, MIB1, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYPN*, NEBL, NEXN*, NKX2-5, NPPA, OBSCN, PDLIM3, PKP2*^,**, PLEKHM2, PLN, PPCS, PRDM16*, PSEN1, PSEN2, RAF1*, RBM20*,  RPL3L, SCN5A*^,**, SDHA*, SGCD, TBX20, TCAP, TMEM43*, TMPO*, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TTN, VCL*, VEZF1

Hypertrophe Kardiomyopathie (HCM, CMH): 60 Gene (260,0 kb)

ABCC9, ACTA1, ACTC1*, ACTN2*, ALPK3, ANKRD1, BAG3*^,**, CACNA1C*, CACNB2*, CALR3, CASQ2*, CAV3*^,**, CORIN, COX15, CRYAB, CSRP3*, DES*, DSP*^,**, FHL1*, FHOD3, FLNC*, FXN, GAA*^,**, GLA*^,**, JPH2*, KCNQ1*^,**, KLF10, KLHL24, LAMP2*, LDB3, MRAS, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYOM1, MYOZ2,  MYPN*, NEXN*, OBSCN, PDLIM3, PLN, PRKAG2*, PTPN11*, RAF1*, RIT1*, RYR2*^,**, SLC25A4, TCAP, TMPO*, TNNC1*, TNNI3*, TNNT2*^,**, TPM1*, TRIM63, TTN, TTR*, VCL*

Restriktive Kardiomyopathie (RCM): 14 Gene (135,2 kb)

ACTC1*, BAG3*^,**, DES*, FLNC*, KIF20A, MYBPC3*^,**, MYH7*^,**, MYL2*, MYL3*, MYPN*, TNNI3*, TNNT2*^,**, TPM1*, TTN

Arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVD, ARVC): 27 Gene (185,3 kb)

ACTC1*, CDH2*, CTNNA3, DES*, DSC2*^,**, DSG2*^,**, DSP*^,**, FLNC, JUP*^,**, LDB3, LMNA*^,**, MYBPC3*^,**, MYH7*^,**, MYL2*, MYL3*, PKP2*^,**, PLN, RYR2*^,**, SCN5A*^,**, TGFB3*^,**, TJP1, TMEM43*, TNNC1*, TNNI3*, TNNT2*^,**, TPM1*, TTN

Nichtdilatierte linksventrikuläre Kardiomyopathie (NDLVC, LVNC): 35 Gene (226,1kb)

ACTC1*, ACTN2*, DES*, DMD*^,**, DMPK, DSP*^,**, DTNA, FLNC, GATA4*, HCN4*, ILK*, LDB3, LMNA*^,**, MIB1, MYBPC3*^,**, MYH7*^,**, MYL2*, MYL3*, NKX2-5*, NNT*, NONO, OBSCN, PLN, PRDM16, RBM20*, RYR2*^,**, SCN5A*^,**, TAFAZZIN*, TBX5*^,**, TBX20*, TMEM43*, TMEM70, TNNT2*^,**, TPM1*, TTN

RASopathie-assoziierte Kardiomyopathien: 17 Gene (26,6 kb)

BRAF*^,**, HRAS*,**, KRAS*^,**, LZTR1*^,**, MAP2K1*, MAP2K2*, MAPK1, MRAS*, NRAS*^,**, PTPN11*, RAF1*, RIT1*, RRAS2, SHOC2*, SOS1*, SOS2*, SPRED2

Myokardiale Speicherkrankheiten: 16 Gene (20,7 kb)

APOA1*, B2M, FGA, FTH1*, GAA*^,**, GLA*^,**, GSN*, HAMP*^,**, HFE*^,**, HJV*^,**, LAMP2*, PRKAG2*, SLC40A1*^,**, TFR2*^,**, TTR*, LYZ

^{* 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