| STT | Panel | Phổ gene |
| | TIM MẠCH |
| 1 | Tim mạch - 174 genes | ABCC9,
ABCG5, ABCG8, ACTA1, ACTA2, ACTC1, ACTN2, AKAP9, ALMS1, ANK2, ANKRD1,
APOA4, APOA5, APOB, APOC2, APOE, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2,
CALM1, CALR3, CASQ2, CAV3, CBL, CBS, CETP, COL3A1, COL5A1, COL5A2,
COX15, CREB3L3, CRELD1, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK,
DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EYA4, FBN1, FBN2, FHL1,
FHL2, FKRP, FKTN, FXN, GAA, GATAD1,GCKR, GJA5, GLA, GPD1L, GPIHBP1,
HADHA, HCN4, HFE, HRAS, HSPB8, ILK, JAG1, JPH2, JUP, KCNA5, KCND3,
KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS,
LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMF1, LMNA, LPL, LTBP2,
MAP2K1, MAP2K2, MIB1, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK,
MYLK2, MYO6, MYOZ2, MYPN, NEXN, NKX2-5, NODAL, NOTCH1, NPPA, NRAS,
PCSK9, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RANGRF,
RBM20, RYR1, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2,
SDHA, SEPN1, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC2A10, SMAD3, SMAD4,
SNTA1, SOS1, SREBF2, TAZ, TBX20, TBX3, TBX5, TCAP, TGFB2, TGFB3, TGFBR1,
TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4,
TTN, TTR, TXNRD2, VCL, ZBTB17, ZHX3, ZIC3 |
| 2 | Cơ tim phì đại (HCM) - 23 genes | ACTC1,
ACTN2, CSRP3, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3,
MYOZ2, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL |
| 3 | Cơ tim giãn nở (DCM) - 59 genes | ABCC9,
ACTA1, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD,
DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, GATAD1,
HADHA, HFE, ILK, JUP, LAMA2, LAMA4, LAMP2, LDB3, LMNA, MURC, MYBPC3,
MYH6, MYH7, MYPN, NEXN, NPPA, PDLIM3, PKP2, PLN, PRDM16, RBM20, SCN5A,
SDHA, SGCB, SGCD, SGCG, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2,
TPM1, TTN, TXNRD2, VCL |
| 4 | Restrictive cardiomyopathy (RCM) - 9 genes | TNNI3, DES, MYH7, TNNT2, ACTC1, MYL3, MYL2, TPM1, MYPN |
| 5 | Long QT syndrome (LQTS) - 16 genes | KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5, RYR2, KCNE3, CALM1 |
| 6 | Short QT syndrome (SQTS) - 4 genes | KCNH2, KCNQ1, KCNJ2, CACNA2D1 |
| 7 | Brugada syndrome (BrS) - 14 genes | SCN5A, GPD1L, CACNA1C, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA2D1, KCND3, RANGRF, HCN4, KCNH2, PKP2, ABCC9 |
| 8 | Catecholaminergic polymorphic ventricular tachycardia (CPVT) - 6 genes | RYR2, CASQ2, KCNE1, KCNJ2, TRDN, CALM1 |
| 9 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - 12 genes | PKP2, DSP, DSG2, DSC2, JUP, TTN, TMEM43, RYR2, DES, TGFB3, LMNA, SCN5A |
| 10 | Left ventricular non-compaction (LVNC) - 10 genes | MYH7, MYBPC3, TAZ, TPM1, ACTC1, TNNT2, PRDM16, MIB1, CASQ2, DTNA |
| 11 | Noonan syndrome (NS) - 9 genes | PTPN11, SOS1, RAF1, KRAS, BRAF, CBL, NRAS, MAP2K1, SHOC2 |
| 12 | Marfan syndrome (MFS) - 4 genes | FBN1, TGFBR2, TGFBR1, LTBP2 |
| 13 | Loeys-Dietz syndrome (LDS) - 3 genes | TGFBR2 ,TGFBR1, FBN1 |
| 14 | Familial aortic anuerysm (FAA) - 12 genes | ACTA2, FBN1, MYH11, TGFB2, TGFBR2, COL3A1, SMAD3, MYLK, TGFBR,SLC2A10,NOTCH1,EFEMP2 |
| 15 | Aortic valve disease (AVD) - 3 genes | NOTCH1, ELN, FBN1 |
| 16 | Familial Hypercholesterolaemia (FH) - 8 genes | LDLR, APOB, PCSK9, LDLRAP1, CETP, SREBF2, APOE, ABCG8 |
| | UNG THƯ |
| 17 | Ung thư di truyền – 94 genes | AIP,
ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73,
CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1,
DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2,
FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,
FH, FLCN, GATA2, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2,
MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, PRF1,
PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1,
SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU,
TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC |
| 18 | Ung thư vú, buồng trứng di truyền– BRCA1/2 | BRCA1, BRCA2 |
| 19 | Ung thư vú, buồng trứng di truyền – BRCA1/2 Plus (+del/dup) | BRCA1, BRCA2 |
| 20 | Ung thư vú, buồng trứng di truyền – 20 genes | ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 |
| 21 | Ung thư tử cung - 7 genes | EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN |
| 22 | Ung thư phụ khoa - 13 genes | BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53 |
| 23 | Ung thư vú/Phụ khoa - 25 genes | ATM,
BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6,
MUTYH, NBN, NF1, PALB2, PMS2, POLD1 (rs3824999), PTEN, RAD51C, RAD51D,
RECQL, SDHB, SDHD, STK11, TP53 |
| 24 | Lynch/Ung thư đại trực tràng di truyền – 7 genes | APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 |
| 25 | Ung thư đại trực tràng di truyền - 16 genes | APC, BLM, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1 (rs3824999), PTEN, SMAD4, STK11, TP53 |
| 26 | Ung thư tuyến tiền liệt di truyền - 14 genes | ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13 (rs138213197), MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53 |
| 27 | Ung thư dạ dày di truyền - 16 genes | APC, BMPR1A, CDH1, EPCAM, KIT, MLH1, MSH2, MSH6, NF1, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53 |
| 28 | Ung thư tuyến giáp di truyền – 7 genes | APC, CHEK2, DICER1, PRKAR1A, PTEN, RET, TP53 |
| 29 | U tân sinh đa tuyến nội tiết/U cận hạch/U tủy thượng thận - 13 genes | CDC73, FH, MAX, MEN1, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, TP53 |
| 30 | Ung thư thận di truyền - 23 genes | BAP1,
EPCAM, FH, FLCN, HNF1A, GPC3, MET, MITF (rs149617956), MLH1, MSH2,
MSH6, PALB2, PMS1, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL,
WT1 |
| 31 | Ung thư thận/bàng quang di truyền - 28 genes | BAP1,
CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, HNF1A, GPC3, MET, MITF
(rs149617956), MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PTEN, SDHB, SDHC,
SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 |
| 32 | U não/ hệ thần kinh di truyền - 32 genes | ALK, APC, BAP1,
DICER1, EPCAM, EZH2, GPC3, HRAS, MEN1, MLH1,
MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, SDHAF2,
SDHB, SDHC, SDHD, SMARCB1, SUFU, TMEM, 127, TP53, TSC1, TSC2, VHL |
| 33 | U hắc tố - 8 genes | BAP1, BRCA1, BRCA2, CDK4, MITF (rs149617956), PTEN, RB1, TP53 |
| 34 | Thiếu máu Fanconi - 16 genes | BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4 |
| 35 | Ung thư tuyến tụy di truyền - 21 genes | APC,
ATM, BMPR1A, BRCA1, BRCA2, CDK4, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6,
NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL |
| 36 | Hội chứng rối loạn sinh tủy /Ung thư bạch cầu - 18 genes | ATM, BLM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, GATA2, HRAS, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, RUNX1, TP53 |
| 37 | Sarcoma - 23 genes | APC,
BLM, CDKN1C, DICER1, EPCAM, FH, HRAS, KIT, MLH1, MSH2, MSH6, NBN, NF1,
PMS2, PRKAR1A, PTCH1, RB1, RECQL4, SDHB, SDHC, SDHD, SUFU, TP5 |
