Multigen-Diagnostik

Panel-Nummer: ID027.02

Gene (132)

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 ID027.02

Kardiomyopathien, umfassende Diagnostik: 132 Gene (456,7 kb)

ABCC9, ACTA1*, ACTC1*, ACTN2*, ALMS1*, ALPK3, ANKRD1, BAG3*^,**, BAG5, BRAF*^,**, CALR3, CASQ2*, CAV3*^,**, CAVIN4, CBL, CDH2, COA5, COA6, COX15, CRYAB, CSRP3, CTNNA3, DES*, DMD*^,**, DNAJC19, DOLK, DPM3, DSC2*^,**, DSG2*^,**, DSP*^,**, DTNA, EMD*, EYA4, FHL1*, FHL2*, FHOD3, FKRP*, FKTN, FLNC*, FXN, GAA*^,**, GATAD1, GET3, GLA*^,**, HADHA, HCN4*, HFE*^,**, HRAS*^,**, ILK, JPH2*, JUP*^,**, KIF20A, KLF10, KLHL24, KRAS*, LAMA2, LAMA4, LAMP2*, LDB3, LIMS2, LMNA*^,**, LMOD2, LZTR1*^,**, MAP2K1*, MAP2K2*, MAPK1, MCM10, MIB1, MRAS*, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYO6, MYOM1, MYOZ2, MYPN*, NEBL, NEXN*, NKX2-5*, NPPA, NRAS*^,**, OBSCN, PDLIM3, PKP2*^,**, PLN, PPCS, PRDM16*, PRKAG2*, PSEN1, PSEN2, PTPN11*, RAF1*, RBM20*, RIT1*, RPL3L, RRAS2, RYR2*, SCN2B, SCN5A*^,**, SCO2, SDHA*, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SOS1*, SOS2, SPRED2, SYNE1, SYNE2, TAFAZZIN*, TBX20*, TCAP, TGFB3*^,**, TMEM43*, TMPO, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TRIM63, TRPM4, TTN, TTR*, TXNRD2, VCL*, VEZF1

Dilatative Kardiomyopathie (DCM, CMD): 63 Gene (287,5 kb)

ABCC9, ACTC1*, ACTN2*, ANKRD1, BAG3*^,**, BAG5, CRYAB, CSRP3, DES*, DMD*^,**, DMAJC19, DSG2*^,**, DSP*^,**, EMD*, EYA4, FHL1*, FKRP*, FKTN, FLNC*, GATAD1, GET3, HFE*,**, JPH2*, JUP*^,**, LAMA4, LAMP2*, LDB3, LMNA*^,**, LMOD2, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYPN*, NEBL, NEXN*, NKX2-5*, PDLIM3, PLN, PPCS, PRDM16*, PSEN1, PSEN2, RAF1*, RBM20*,  RPL3L, SCN5A*^,**, SDHA*, SGCD, SYNE1, SYNE2, TAFAZZIN*, TBX20*, TCAP, TMEM43*, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TTN, VCL*, VEZF1

Hypertrophe Kardiomyopathie (HCM, CMH): 56 Gene (209,1 kb)

ACTC1*, ACTN2*, ALPK3, ANKRD1, BRAF*^,**, CALR3, CAV3*^,**, CSRP3, DES*, FHL1*, FHOD3, FLNC*, GAA*^,**, GLA*^,**, HRAS*^,**, JPH2*, KLF10, KLHL24, KRAS*, LAMP2*, LDB3, LZTR1*^,**, MAP2K1*, MAP2K2*, MAPK1, MRAS*, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYOM1, MYOZ2, MYPN*, NEXN*, NRAS*^,**, PDLIM3, PLN, PRKAG2*, PTPN11*, RAF1*, RIT1*, RRAS2, SOS1*, SOS2, SPRED2, TCAP, TNNC1*, TNNI3*, TNNT2*^,**, TPM1*, TRIM63, TTN, TTR*, VCL*

Restriktive Kardiomyopathie (RCM): 14 Gene (31,4 kb)

ACTC1*, BAG3*^,**, DES*, FLNC*, KIF20A, MCM10, MYH7*^,**, MYL2*, MYL3*, MYPN*, TNNI3*, TNNT2^*,**, TPM1*, TTR

Arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVD, ARVC): 15 Gene (150,6 kb)

CDH2, CTNNA3, DES*, DSC2*^,**, DSG2*^,**, DSP*^,**, JUP*^,**, LMNA*^,**, PKP2*^,**, PLN, PRKAG2*, RYR2*^,**, TGFB3*^,**, TMEM43*, TTN

Linksventrikuläre Noncompaction-Kardiomyopathie (LVNC, NCCM): 18 Gene (169,0 kb)

ACTC1*, ACTN2*, DMD*,**, DTNA, HCN4*, LDB3, LMNA*^,**, MIB1, MYBPC3*^,**, MYH7*^,**, NKX2-5*, PRDM16*, RYR2*^,**, SCN5A*^,**, TAFAZZIN*, TNNT2*^,**, TPM1*, TTN

^{* 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