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 |
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 |
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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 |
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ACTC (ACTC1), CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR |
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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 |
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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 |
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KCNH2, KCNJ2, KCNQ1 |
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CACNA1C, CACNB2, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A |
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DSC2, DSG2, DSP, JUP, PKP2, RYR2,TMEM43 |
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CASQ2, KCNJ2, RYR2 |
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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 |
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BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SOS1, SHOC2 (S2G mutation only) |
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ACVRL1, ENG, RASA1, SMAD4 |
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ACVRL1, BMPR2, CAV1, ENG, SMAD9 |
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ELN |
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JAG1 |
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TBX5 |
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ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A |
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Doença Cardíaca Congênita devido a Síndrome de Micro Deleção/Duplicação |
Arranjo Genômico Completo (CGH) |