Doenças neuromusculares

Cardiomiopatia alargado

Lista de Genes
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANKRD1, ATP5F1D
BAG3, BRAF
CACNA1C, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CRYAB, CSRP3, CTNNA3
DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA
EMD, EYA4
FBXL4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC
GAA, GATA4, GATA6, GATAD1, GATC, GLA
HAND1, HCN4, HRAS
ILK, ISL1
JPH2, JUP
KRAS
LAMA4, LAMP2, LDB3, LMNA, LRPPRC, LZTR1
MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYOM1, MYOT, MYOZ2, MYPN
NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEXN, NF1, NKX2-5, NRAP, NRAS, NUBPL
PCCA, PCCB, PDLIM3, PKP2, PLN, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PTPN11
RAF1, RBM20, RIT1, RPL3L, RRAS, RYR2
SCN5A, SDHA, SDHAF1, SDHD, SGCD, SGSH, SHMT2, SHOC2, SLC22A5, SLC25A20, SLC30A5, SOS1, SOS2, SPEG, SURF1
TAFAZZIN, TBX20, TBX5, TCAP, TGFB3, TMEM126B, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, TXNRD2
VCL
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída