Cardiologia Genética

É importante lembrar que a GeneDx não fornece testes diretamente aos pacientes.

Todos os testes devem ser solicitados por um médico especializado e os resultados serão enviados para o médico que solicitou o exame.

Teste	Genes
Cardiomiopatia	ABCC9, ACTC (ACTC1), ACTN2, ANKRD1, BAG3, BRAF, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TMEM43,TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Arritmia	AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2 (HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, NKX2.5, PKP2, RANGRF (MOG1), RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1,TMEM43
Cardiomiopatia Hipertrófica	ACTC (ACTC1), CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR
Cardiomiopatia Dilatada	ACTC (ACTC1), ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LDB3 (ZASP), LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Síndrome do QT Longo	1. NextGeneration Sequencing Panel for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 2. Microarray-based deletion/duplication testing for LQTS: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1
Síndrome do QT Curto	KCNH2, KCNJ2, KCNQ1
Síndrome de Brugada	CACNA1C, CACNB2, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
Cardiomiopatia Arritmogênica do Ventrículo Direito	DSC2, DSG2, DSP, JUP, PKP2, RYR2,TMEM43
Taquicardia ventricular polimórfica catecolaminérgica	CASQ2, KCNJ2, RYR2
Síndrome de Marfan, TAAD e Doenças Relacionadas	1. ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2 Sequencing 2. ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 Deletion/Duplication Testing
Síndrome de Noonan	BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SOS1, SHOC2 (S2G mutation only)
Telangiectasia Hemorrágica Hereditária	ACVRL1, ENG, RASA1, SMAD4
Hipertensão Arterial Pulmonar	ACVRL1, BMPR2, CAV1, ENG, SMAD9
Estenose Aórtica Supravalvular	ELN
Síndrome de Alagille	JAG1
Síndrome de Holt-Oram	TBX5
Parada cardíaca súbita (SCA)	ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
Teste de Portador
Doença Cardíaca Congênita devido a Síndrome de Micro Deleção/Duplicação	Arranjo Genômico Completo (CGH)