Short Qt Syndrome 1; Sqt1

Description

Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). Genetic Heterogeneity of Short QT SyndromeShort QT syndrome-2 (SQT2 ) is caused by mutation in the KCNQ1 gene (OMIM ). SQT3 (OMIM ) is caused by mutation in the KCNJ2 gene (OMIM ).

Genes related to Short Qt Syndrome 1; Sqt1

KCNH2
CACNA2D1
KCNJ2
KCNQ1

Clinical Features

Top most frequent phenotypes and symptoms related to Short Qt Syndrome 1; Sqt1

Sudden cardiac death
Syncope
Bradycardia
Atrial fibrillation
Palpitations
Cardiac arrest
Atrioventricular block
Ventricular fibrillation
Ventricular arrhythmia
Paroxysmal atrial fibrillation

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

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Short Qt Syndrome 1; Sqt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL Specificity 2 % Genes 25 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 1 % Genes 50 %
Brugada Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 7 % Genes 25 %
Long QT Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 17 % Genes 75 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 87 more genes Panel GTR000556277 complete gene list DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR Specificity 4 % Genes 100 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 92 more genes Panel GTR000528536 complete gene list TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR Specificity 3 % Genes 75 %
Comprehensive Arrhythmias Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B , (...) View the complete list with 3 more genes Panel GTR000552174 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 14 % Genes 75 %
Long QT Syndrome and Short QT Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, SNTA1, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
Long QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 75 %
Atrial Fibrillation Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 19 % Genes 75 %
Cardiac Channelopathy Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP , (...) View the complete list with 12 more genes Panel GTR000530643 complete gene list RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 13 % Genes 100 %
Short QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
LQTS panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. SCN4B, AKAP9, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
Cardiac Arrhythmia Gene Panel. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...) View the complete list with 8 more genes Panel GTR000553668 complete gene list SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, MYBPC3, BAG3, MYH7, LMNA, GLA, DSP Specificity 11 % Genes 75 %
KCNH2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNH2 Specificity 100 % Genes 25 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 65 more genes Panel GTR000520063 complete gene list MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, ILK, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, LDB3, MYOT, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, SGCB, SGCA, FKTN, GLA, DMD, FXN, COX15, TAZ, SCO2, SLC25A4, DSP, EYA4, GAA, TTR Specificity 4 % Genes 75 %
Comprehensive Arrhythmia Panel. By GeneDx in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 10 more genes Panel GTR000520446 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 10 % Genes 75 %
Long QT Syndrome Gene Sequencing & Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 75 %
Long QT Syndrome Sequencing Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 75 %
Long QT Syndrome Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 75 %
Short QT Syndrome Sequencing Panel. By GeneDx in United States. KCNQ1, KCNH2, KCNJ2 Specificity 100 % Genes 75 %
CardioNext with TTN. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 65 more genes Panel GTR000560510 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR Specificity 5 % Genes 100 %
CustomNext: Cardio. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 86 more genes Panel GTR000560528 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR Specificity 4 % Genes 100 %
RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560626 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 12 % Genes 100 %
RhythmFirst. By Ambry Genetics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 75 %
RhythmFirst reflex RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560629 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 12 % Genes 100 %
KCNH2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNH2 Specificity 100 % Genes 25 %
LQT Multi-Gene Package. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 40 % Genes 50 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 27 more genes Panel GTR000511116 complete gene list CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, LMNA Specificity 9 % Genes 100 %
KCNH2, KCNJ2, KCNQ1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 100 % Genes 75 %
CAV3, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2, CAV3 Specificity 34 % Genes 50 %
KCNH2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNH2 Specificity 100 % Genes 25 %
KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1, SCN5A, KCNH2 Specificity 67 % Genes 50 %
KCNH2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNH2 Specificity 100 % Genes 25 %
Long QT Syndrome 2 (sequence analysis of KCNH2 gene). By CGC Genetics in Portugal. KCNH2 Specificity 100 % Genes 25 %
Cardiac conduction changes (NGS panel for 27 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1 , (...) View the complete list with 7 more genes Panel GTR000523382 complete gene list TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 12 % Genes 75 %
Long QT syndrome (NGS panel for 14 genes). By CGC Genetics in Portugal. ALG10, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 75 %
Short QT syndrome (NGS panel for 3 genes). By CGC Genetics in Portugal. KCNQ1, KCNH2, KCNJ2 Specificity 100 % Genes 75 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 39 more genes Panel GTR000525172 complete gene list TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 6 % Genes 75 %
Short QT syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 60 % Genes 75 %
Short QT syndrome 3 (deletion/duplication analysis on KCNJ2 gene). By CGC Genetics in Portugal. KCNH2 Specificity 100 % Genes 25 %
Long QT syndrome. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 40 % Genes 50 %
Long QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 75 %
Long QT Syndrome via the KCNH2 Gene. By PreventionGenetics PreventionGenetics in United States. KCNH2 Specificity 100 % Genes 25 %
Short QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, GJA5, NPPA, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 20 % Genes 75 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...) View the complete list with 144 more genes Panel GTR000553680 complete gene list ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE Specificity 3 % Genes 100 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...) View the complete list with 29 more genes Panel GTR000555626 complete gene list MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, FBN2, TGFBR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, MYBPC3, MYH7, DES, CAV3, LMNA, FKTN, NRAS, FBN1, DSP, EYA4, TTR Specificity 7 % Genes 75 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...) View the complete list with 20 more genes Panel GTR000552126 complete gene list GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LIPA, KRAS, IDUA, HRAS, DHCR7, BRAF, GBA, GALNS, GUSB, CTSA, RAF1, GLB1, GNPTAB Specificity 5 % Genes 50 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B , (...) View the complete list with 35 more genes Panel GTR000528354 complete gene list MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, LDB3, DES, CAV3, DSP Specificity 8 % Genes 100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 25 %
Brugada syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559005 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 8 % Genes 50 %
Brugada syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559015 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 8 % Genes 50 %
Cardiac channelopathy Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559020 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 10 % Genes 100 %
Brugada syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559022 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 8 % Genes 50 %
Cardiac channelopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559035 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 10 % Genes 100 %
Cardiac channelopathy NGS panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559048 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 10 % Genes 100 %
Long QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 16 % Genes 75 %
Long QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 16 % Genes 75 %
Long QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 16 % Genes 75 %
Short QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Short QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Short QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 2 % Genes 75 %
Long QT Syndrome (LQTS). By MGZ Medical Genetics Center in Germany. KCNE2, RYR2, KCNQ1, KCNE1, KCNH2, CAV3 Specificity 34 % Genes 50 %
Short QT syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. KCNQ1, KCNH2 Specificity 100 % Genes 50 %
Long QT syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 40 % Genes 50 %
Cardiac conduction abnormalities panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1 , (...) View the complete list with 13 more genes Panel GTR000509410 complete gene list DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CACNA1A, CAV3, LMNA, DSP Specificity 13 % Genes 100 %
Long QT syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. KCNH2 Specificity 100 % Genes 25 %
Short QT syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. KCNH2 Specificity 100 % Genes 25 %
Long QT syndrome panel. By Centogene AG - the Rare Disease Company in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 50 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 50 %
Arrhythmia, familial panel. By Centogene AG - the Rare Disease Company in Germany. NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000503343 complete gene list NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 11 % Genes 75 %
Long QT syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. KCNQ1, KCNH2 Specificity 100 % Genes 50 %
Atrial Fibrillation and Short QT Syndrome Panel. By CeGaT GmbH in Germany. GJA5, NPPA, KCNA5, SCN4B, KCNE2, CACNB2, SCN3B, SCN2B, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, SCN1B, KCNH2, KCNJ2 Specificity 24 % Genes 100 %
Long QT Syndrome Panel. By CeGaT GmbH in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 75 %
QT syndrome, KCNH2. By GGA - Galil Genetic Analysis in Israel. KCNH2 Specificity 100 % Genes 25 %
Cardio-channelopathy-gene-panel. By MVZ Dortmund Dr. Eberhard & Partner in Germany. GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B , (...) View the complete list with 13 more genes Panel GTR000519702 complete gene list GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 10 % Genes 75 %
Long QT Syndrome (KCNQ1, KCNH2, KCNE1;MLPA). By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1, KCNE1, KCNH2 Specificity 67 % Genes 50 %
Long QT Syndrome 2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNH2 Specificity 100 % Genes 25 %
Short QT Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNH2 Specificity 100 % Genes 25 %
Long QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 75 %
Arrhythmia. By Asper Biogene Asper Biogene LLC in Estonia. GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000558497 complete gene list GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DES, CAV3, LMNA, DSP Specificity 8 % Genes 75 %
Short QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. KCNQ1-AS1, CACNB2, CACNA1C, KCNH2, KCNJ2 Specificity 40 % Genes 50 %
Long QT syndrome, KCNH2 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. KCNH2 Specificity 100 % Genes 25 %
KCNH2 gene sequencing. By Health in Code in Spain. KCNH2 Specificity 100 % Genes 25 %
Standard Long QT syndrome Stage 1. By Health in Code in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 40 % Genes 50 %
Standard Short QT syndrome. By Health in Code in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 100 % Genes 75 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000521459 complete gene list KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 14 % Genes 75 %
Left Ventricular Non-Compactation Panel. By Health in Code in Spain. MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...) View the complete list with 16 more genes Panel GTR000521460 complete gene list MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 6 % Genes 50 %
Auricular Fibrillation Panel. By Health in Code in Spain. KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...) View the complete list with 18 more genes Panel GTR000521461 complete gene list KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, PITX2, TTR Specificity 8 % Genes 75 %
J Wave Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521462 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 9 % Genes 50 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 100 %
Brugada Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521468 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 9 % Genes 50 %
Short QT Syndrome Panel. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 58 % Genes 100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...) View the complete list with 121 more genes Panel GTR000521473 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, MYLK2, ACTC1, PDLIM3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 100 %
Long QT Syndrome Short Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 38 % Genes 75 %
Cardiac Conduction Disease Panel. By Health in Code in Spain. CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...) View the complete list with 8 more genes Panel GTR000521476 complete gene list CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 8 % Genes 50 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease. By Health in Code in Spain. KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN , (...) View the complete list with 33 more genes Panel GTR000521477 complete gene list KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, CAV3, LMNA, DSP, ACADM Specificity 8 % Genes 100 %
Cardiomyopathies Panel. By Health in Code in Spain. FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...) View the complete list with 129 more genes Panel GTR000521478 complete gene list FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 75 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1 , (...) View the complete list with 8 more genes Panel GTR000530467 complete gene list KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, CAVIN1 Specificity 11 % Genes 75 %
Long QT Syndrome Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 38 % Genes 75 %
Ventricular arrhythmia and sudden death without structural heart disease. By Health in Code in Spain. IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...) View the complete list with 57 more genes Panel GTR000530650 complete gene list IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, ACTC1, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, SYNE2, TMEM43, SYNE1, LDB3, FLNC, MYH7, DES, CAV3, LMNA, GLA, CAVIN1, DSP, GAA, TTR, HFE Specificity 6 % Genes 100 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 2 % Genes 100 %
Non-compaction cardiomyopathy. By Health in Code in Spain. NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...) View the complete list with 17 more genes Panel GTR000530653 complete gene list NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 6 % Genes 50 %
Short QT syndrome. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 58 % Genes 100 %
Cardiac conduction disease Panel. By Health in Code in Spain. IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...) View the complete list with 14 more genes Panel GTR000530659 complete gene list IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, EMD, SYNE2, SYNE1, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 9 % Genes 75 %
Atrial fibrillation Panel. By Health in Code in Spain. GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...) View the complete list with 23 more genes Panel GTR000530661 complete gene list GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, ZFHX3, PITX2, TTR Specificity 7 % Genes 75 %
Brugada syndrome / J wave syndrome. By Health in Code in Spain. KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1 , (...) View the complete list with 5 more genes Panel GTR000530663 complete gene list KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 8 % Genes 50 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 100 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 2 % Genes 75 %
Short QT Syndrome 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNH2 Specificity 100 % Genes 25 %
Long QT Syndrome 2. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNH2 Specificity 100 % Genes 25 %
Long QT syndrome 2. By Praxis fuer Humangenetik Wien in Austria. KCNH2 Specificity 100 % Genes 25 %
Short QT syndrome-1. By Praxis fuer Humangenetik Wien in Austria. KCNH2 Specificity 100 % Genes 25 %
Long QT syndrome 2. By MedGene in Slovakia. KCNH2 Specificity 100 % Genes 25 %
Short QT syndrome-1. By MedGene in Slovakia. KCNH2 Specificity 100 % Genes 25 %
Invitae Arrhythmia Comprehensive Panel. By Invitae in United States. MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 19 more genes Panel GTR000528497 complete gene list MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP Specificity 8 % Genes 75 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel. By Invitae in United States. MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...) View the complete list with 47 more genes Panel GTR000528500 complete gene list MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 5 % Genes 75 %
Invitae Epilepsy Panel. By Invitae in United States. ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...) View the complete list with 105 more genes Panel GTR000551760 complete gene list ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, GNAO1, SZT2, NEXMIF, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, CACNA2D2, MFSD8, DNAJC5, QARS, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A3, ATP1A2, SGCE, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 1 % Genes 25 %
Invitae Long QT Syndrome Panel. By Invitae in United States. CALM3, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
Invitae Short QT Syndrome Panel. By Invitae in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 60 % Genes 75 %
Invitae Brugada Syndrome Panel. By Invitae in United States. PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 13 % Genes 25 %
Long QT syndrome type 2: KCNH2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNH2 Specificity 100 % Genes 25 %
LONG QT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000531437 complete gene list KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 14 % Genes 75 %
Short QT syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 60 % Genes 75 %
Arrhythmias: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2 , (...) View the complete list with 17 more genes Panel GTR000512328 complete gene list CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DSP Specificity 9 % Genes 75 %
Long and Short QT Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 75 %
Sudden Cardiac Arrest (SCA): Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CASQ2, KCNE2, RYR2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 30 % Genes 75 %
Comprehensive Cardiovascular: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...) View the complete list with 97 more genes Panel GTR000523310 complete gene list CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 3 % Genes 75 %
Arrhythmias: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000558533 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DSP Specificity 11 % Genes 75 %
Comprehensive Cardiovascular: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 86 more genes Panel GTR000558799 complete gene list TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 3 % Genes 75 %
Familial Arrhythmia Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2 , (...) View the complete list with 10 more genes Panel GTR000530315 complete gene list ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 10 % Genes 75 %
Arrhythmia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000505730 complete gene list GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CAV3, LMNA, SLC25A20, CPT1A, DSP Specificity 11 % Genes 100 %
Pan-Cardio NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...) View the complete list with 81 more genes Panel GTR000506437 complete gene list MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR Specificity 4 % Genes 100 %
Long QT syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
Atrial Fibrillation NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000509335 complete gene list GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 14 % Genes 75 %
Sudden Death Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...) View the complete list with 48 more genes Panel GTR000510871 complete gene list LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, FBN2, TGFBR2, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, TAZ, FBN1, SLC25A4, DSP, EYA4, PSEN1 Specificity 5 % Genes 75 %
Short QT NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 75 % Genes 75 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 100 %
KCNH2. By Fulgent Genetics Fulgent Genetics in United States. KCNH2 Specificity 100 % Genes 25 %
Early-Onset Epileptic Encephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...) View the complete list with 113 more genes Panel GTR000531702 complete gene list RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NR2F1, SLC13A5, KCNB1, SIK1, DNM1, EEF1A2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, MFSD8, DNAJC5, CTSF, SRPX2, QARS, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, ALG13, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, CACNB4, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, LIAS, MECP2, POLG, ADGRV1, ADSL, AUH, UBE3A Specificity 1 % Genes 25 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 1 % Genes 25 %
Short QT Syndrome (SQTS) Panel. By Blueprint Genetics in Finland. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 60 % Genes 75 %
Long QT Syndrome (LQTS) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, NOS1AP, AKAP9, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 19 % Genes 75 %
Brugada Syndrome Panel. By Blueprint Genetics in Finland. CACNB2, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, CAV3 Specificity 12 % Genes 25 %
Atrial Fibrillation Panel. By Blueprint Genetics in Finland. SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA Specificity 16 % Genes 75 %
Arrhythmia Panel. By Blueprint Genetics in Finland. PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...) View the complete list with 35 more genes Panel GTR000552654 complete gene list PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, BAG3, LDB3, DES, TTN, CAV3, LMNA, HADHA, DSP Specificity 6 % Genes 75 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 100 %
Long QT syndrome type II. By Bioarray in Spain. KCNH2 Specificity 100 % Genes 25 %
Long QT syndrome type II. By Bioarray in Spain. KCNH2 Specificity 100 % Genes 25 %
CardioGene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 60 more genes Panel GTR000515873 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 4 % Genes 75 %
Arrhythmia Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4 , (...) View the complete list with 5 more genes Panel GTR000522197 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 12 % Genes 75 %
Long QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 75 %
Short QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 60 % Genes 75 %
Short QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Long QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CALM3, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 18 % Genes 75 %
KCNH2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNH2 Specificity 100 % Genes 25 %
iGene Cardiac Panel. By ApolloGen, Inc. in United States. APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...) View the complete list with 2 more genes Panel GTR000525920 complete gene list APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA, DSP, COL3A1 Specificity 10 % Genes 50 %
Cardiac Arrhythmia Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 31 more genes Panel GTR000551465 complete gene list GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 6 % Genes 75 %
Long QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 75 %
Short QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Ventricular Fibrillation, Familial Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 75 %
KCNH2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNH2 Specificity 100 % Genes 25 %
Channelopathies. By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy. KCNQ1-AS1, CASQ2, RYR2, SCN5A, KCNH2 Specificity 20 % Genes 25 %
SHORT QT SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNQ1-AS1, KCNH2 Specificity 50 % Genes 25 %
LONG QT SYNDROME, ROMANO-WARD SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 40 % Genes 50 %
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A , (...) View the complete list with 5 more genes Panel GTR000558286 complete gene list AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 12 % Genes 75 %
Short QT Syndrome Type 1 , Sequencing KCNH2 Gene. By Reference Laboratory Genetics in Spain. KCNH2 Specificity 100 % Genes 25 %
Long QT Syndrome Type 2 , Sequencing KCNH2 Gene. By Reference Laboratory Genetics in Spain. KCNH2 Specificity 100 % Genes 25 %
Long QT Syndrome , Deletions-Duplications (MLPA) KCNQ1,KCNH2,KCNE1,KCNE2 Genes. By Reference Laboratory Genetics in Spain. KCNE2, KCNQ1, KCNE1, KCNH2 Specificity 50 % Genes 50 %
Long QT Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 28 % Genes 75 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes. By Reference Laboratory Genetics in Spain. CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...) View the complete list with 28 more genes Panel GTR000559857 complete gene list CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP, ACADM Specificity 7 % Genes 75 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes. By Reference Laboratory Genetics in Spain. ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...) View the complete list with 75 more genes Panel GTR000559968 complete gene list ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR Specificity 4 % Genes 75 %
Short QT Syndrome , Panel Massive Sequencing (NGS) 3 Genes. By Reference Laboratory Genetics in Spain. KCNQ1, KCNH2, KCNJ2 Specificity 100 % Genes 75 %
Long QT syndrome 2. By Labor Dr. Wisplinghoff in Germany. KCNH2 Specificity 100 % Genes 25 %
Phosphorus Pan Arrhythmia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2 , (...) View the complete list with 22 more genes Panel GTR000558335 complete gene list CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, DSP Specificity 10 % Genes 100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 50 more genes Panel GTR000558340 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 6 % Genes 100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 67 more genes Panel GTR000558341 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 5 % Genes 100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 75 more genes Panel GTR000558342 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 5 % Genes 100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 58 more genes Panel GTR000558344 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 6 % Genes 100 %
Phosphorus Brugada Syndrome Panel. By Phosphorus Diagnostics LLC in United States. SCN10A, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 10 % Genes 25 %
Phosphorus Long QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN4B, SNTA1, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 75 %
Phosphorus Short QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 67 % Genes 100 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 50 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy. By Athena Diagnostics Inc in United States. TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...) View the complete list with 47 more genes Panel GTR000559467 complete gene list TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, CACNA2D2, CACNA2D1, QARS, BRAT1, ALG13, GRIN2A, GABRG2, CHD2, PNPO, KCNT1, HCN1, GRIN2B, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCNJ11, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, SLC9A6, AMT, GLDC, ALG9, SLC25A22, STXBP1, LIAS, MECP2, SLC25A19, ADSL, UBE3A Specificity 2 % Genes 25 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability. By Athena Diagnostics Inc in United States. GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...) View the complete list with 36 more genes Panel GTR000559478 complete gene list GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45, NEXMIF, PURA, SNAP25, EEF1A2, SPATA5, SETD2, HNRNPU, RBFOX1, CACNA2D1, SRPX2, PQBP1, DCX, DEAF1, BCKDK, ALG13, GRIN2B, GABRB2, FOLR1, SLC35A2, DPYD, GPC3, SMC1A, PLP1, PCDH19, CHRNA7, CDKL5, ARX, SLC6A8, SLC9A6, ALG9, GATM, GAMT, ABAT, MECP2, HSD17B10, ADSL Specificity 2 % Genes 25 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms. By Athena Diagnostics Inc in United States. SPTAN1, ST3GAL3, NR2F1, TBL1XR1, CACNA2D1, GRIN2A, SLC35A2, SCN2A, GABRB3, MEF2C, FOXG1, CDKL5, ARX, SLC25A22, STXBP1, ADSL Specificity 7 % Genes 25 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 1 % Genes 25 %
Brugada Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 7 % Genes 25 %
CACNA2D1. By Institute for Human Genetics University Clinic Freiburg in Germany. CACNA2D1 Specificity 100 % Genes 25 %
Brugada Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 7 % Genes 25 %
Brugada Syndrome Panel. By CeGaT GmbH in Germany. SCN10A, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 8 % Genes 25 %
BRUGADA SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 8 % Genes 25 %
CACNA2D1. By Fulgent Genetics Fulgent Genetics in United States. CACNA2D1 Specificity 100 % Genes 25 %
Brugada Syndrome Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 8 % Genes 25 %
CACNA2D1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNA2D1 Specificity 100 % Genes 25 %
CACNA2D1 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNA2D1 Specificity 100 % Genes 25 %
Periodic Paralysis Advanced Sequencing Evaluation. By Athena Diagnostics Inc in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 25 %
KCNJ2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. KCNJ2 Specificity 100 % Genes 25 %
Catecholminergic Polymorphic Ventricular Tachycardia (CPVT) Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 25 %
KCNJ2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ2 Specificity 100 % Genes 25 %
KCNJ2. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ2 Specificity 100 % Genes 25 %
Epilepsy Panel - Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...) View the complete list with 49 more genes Panel GTR000530238 complete gene list PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, LMNB2, GRIN2A, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, KCTD7, NHLRC1, GOSR2, ATP1A3, ATP1A2, KCNJ2, KCNJ11, SCN1A, CSTB, PHGDH, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, MOCS1, ALDH7A1, SUOX, SLC9A6, AMT, GLDC, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel. By GeneDx in United States. CASQ2, RYR2, KCNJ2 Specificity 34 % Genes 25 %
CPVTNext. By Ambry Genetics in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 25 %
KCNJ2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNJ2 Specificity 100 % Genes 25 %
KCNJ2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNJ2 Specificity 100 % Genes 25 %
KCNJ2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNJ2 Specificity 100 % Genes 25 %
Andersen-Tawil syndrome (sequence analysis of KCNJ2 gene). By CGC Genetics in Portugal. KCNJ2 Specificity 100 % Genes 25 %
Short QT syndrome 3 (deletions/duplications analysis of KCNJ2 gene). By CGC Genetics in Portugal. KCNJ2 Specificity 100 % Genes 25 %
Andersen Syndrome Type 1. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCNJ2 Specificity 100 % Genes 25 %
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene. By PreventionGenetics PreventionGenetics in United States. KCNJ2 Specificity 100 % Genes 25 %
Primary Periodic Paralysis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNQ1, SCN5A, KCNJ2 Specificity 25 % Genes 50 %
Catecholaminergic polymorphic ventricular tachycardia NGS panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 25 %
Catecholaminergic polymorphic ventricular tachycardia Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 25 %
Catecholaminergic polymorphic ventricular tachycardia Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 25 %
Periodic Palsy. By MGZ Medical Genetics Center in Germany. KCNJ12, KCNE3, KCNJ2, RYR1, CACNA1S, SCN4A Specificity 17 % Genes 25 %
Andersen Syndrome Type 1. By Bioscientia GmbH Center for Human Genetics in Germany. KCNJ2 Specificity 100 % Genes 25 %
Short QT syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. KCNJ2 Specificity 100 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel. By CeGaT GmbH in Germany. GNAI2, DPP6, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 10 % Genes 25 %
Single gene testing KCNJ2. By CeGaT GmbH in Germany. KCNJ2 Specificity 100 % Genes 25 %
Bartter Syndrome incl. differential diagnosis Panel. By CeGaT GmbH in Germany. KCNJ18, KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 17 % Genes 25 %
Periodic paralysis Panel. By CeGaT GmbH in Germany. KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 20 % Genes 25 %
Andersen Syndrome Type 1,KCNJ2. By GGA - Galil Genetic Analysis in Israel. KCNJ2 Specificity 100 % Genes 25 %
Long QT Syndrome 7. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNJ2 Specificity 100 % Genes 25 %
Short QT Syndrome 3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNJ2 Specificity 100 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Asper Biogene Asper Biogene LLC in Estonia. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNJ2 Specificity 17 % Genes 25 %
KCNJ2 gene sequencing. By Health in Code in Spain. KCNJ2 Specificity 100 % Genes 25 %
Standard Long QT syndrome Stage 2. By Health in Code in Spain. SCN4B, KCNJ2, CAV3 Specificity 34 % Genes 25 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...) View the complete list with 61 more genes Panel GTR000521471 complete gene list FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, RYR2, PKP2, ABCC9, KCNJ8, LAMP2, SCN5A, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, PTPN11, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, DNAJC19, RAF1, CRYAB, DSP, GLB1, EYA4, PSEN1, GAA, TTR, HFE Specificity 2 % Genes 25 %
Skeletal Myopathy Panel. By Health in Code in Spain. CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...) View the complete list with 26 more genes Panel GTR000521472 complete gene list CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, PMM2, SLC22A5, SURF1, PHKA1, TAZ, COQ2, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 3 % Genes 25 %
Catecholaminergic Polymorphic VT Panel. By Health in Code in Spain. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 13 % Genes 25 %
Skeletal myopathy Panel. By Health in Code in Spain. CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...) View the complete list with 37 more genes Panel GTR000530654 complete gene list CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, SDHA, PMM2, SLC22A5, FXN, SURF1, PHKA1, TAZ, SCO2, COQ2, SLC25A3, CAVIN1, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 2 % Genes 25 %
Catecholaminergic polymorphic ventricular tachycardia panel. By Health in Code in Spain. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 12 % Genes 25 %
Andersen Syndrome Type 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNJ2 Specificity 100 % Genes 25 %
Andersen syndrome. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 25 %
Atrial fibrillation, familial, 9. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 25 %
Long QT syndrome 7. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 25 %
Short QT syndrome-3. By Praxis fuer Humangenetik Wien in Austria. KCNJ2 Specificity 100 % Genes 25 %
Andersen Syndrome. By Medical Genetics Laboratory Hallym University Hangang Sacred Heart Hospital in South Korea. KCNJ2 Specificity 100 % Genes 25 %
Andersen syndrome. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 25 %
Atrial fibrillation, familial, 9. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 25 %
Long QT syndrome 7. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 25 %
Short QT syndrome-3. By MedGene in Slovakia. KCNJ2 Specificity 100 % Genes 25 %
Invitae Comprehensive Neuromuscular Disorders Panel. By Invitae in United States. VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...) View the complete list with 84 more genes Panel GTR000551683 complete gene list VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, KCNJ2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, FKRP, CLCN1, SMN2, LMNA, DNM2, RAPSN, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, DOK7, CHRNE, SMN1, DMD, DPAGT1, CHAT, TAZ, SQSTM1, ALG2, DPM1, PNPLA2, DPM3, VCP, CRYAB, TRIM32, GNE, CPT2, GAA Specificity 1 % Genes 25 %
Invitae Hypokalemic Periodic Paralysis Panel. By Invitae in United States. KCNJ2, CACNA1S, SCN4A Specificity 34 % Genes 25 %
Invitae Comprehensive Myopathy Panel. By Invitae in United States. STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10 , (...) View the complete list with 30 more genes Panel GTR000551743 complete gene list STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, RYR1, CACNA1S, SELENON, FHL1, BAG3, ATP2A1, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCN4A, DYSF, CAV3, LMNA, DNM2, NEB, SQSTM1, VCP, CRYAB, GNE, CPT2 Specificity 2 % Genes 25 %
Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Invitae in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 25 %
Catecholaminergic polymorphic ventricular tachycardia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASQ2, TRDN, CALM1, RYR2, KCNJ2 Specificity 20 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASQ2, TRDN, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 15 % Genes 25 %
KCNJ2. By Fulgent Genetics Fulgent Genetics in United States. KCNJ2 Specificity 100 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 25 %
Periodic Paralysis Panel. By Blueprint Genetics in Finland. KCNJ2, CACNA1S, SCN4A, CLCN1 Specificity 25 % Genes 25 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1, EGF, SSR4, CNNM2, GPHN, PCK1, HMBS, TRPM6, UROD, SLC5A1, FMO3, LCT, HGD, UMPS, FXYD2, SLC7A9, PEX11B, GYG1, PEPD, FLNB, CLDN19, CLDN16, RBCK1, SLC6A19, ACY1, SLC30A10, ECHS1, LIPT1, CLPB, SERAC1, FAM111A, MAN1B1, SLC25A1, REN, AGPAT2, PLIN1, TBC1D4, LIPE, HJV, HAMP, TFR2, SI, SLC40A1, SLC39A4, INSR, TPMT, B3GLCT, PTF1A, AKT2, SLC2A2, HADH, PCBD1, SLC46A1, TMEM165, COG5, COG6, ALG11, COG4, NBAS, TRIM37, GNPAT, CD320, PGK1, ADAR, IFIH1, ZMPSTE24, MYH3, AMPD1, FBXL4, PRKAG2, CAV1, CNNM4, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, EBP, MAGT1, LAMP2, HCFC1, SEC23B, NEU1, UROS, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, PRPS1, COL11A2, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, ATP13A2, MFSD8, FLNA, ASAH1, ALG13, EPM2A, FOLR1, SLC35A2, NHLRC1, DPM2, LAMA2, ANO10, KCNA1, KCNJ2, RYR1, CACNA1S, BSCL2, CASR, KCNJ11, GCH1, SCN4A, DYSF, COQ4, CAV3, FKRP, CLCN1, LMNA, DPYD, CLN5, ABCC8, SUMF1, SLC17A5, PEX1, MCOLN1, SLC7A7, SERPINA1, PEX7, PPT1, PEX2, CTNS, FKTN, CLN8, CLN6, GPC3, SLC2A1, RAI1, NPC2, NPC1, LIPA, IDUA, IDS, HRAS, GLA, DHCR7, GBA, ASPA, ARSA, PNP, HPD, GNMT, MOGS, DPAGT1, DOLK, SUGCT, ARSB, APRT, AHCY, AGA, ADA, ABCD4, PDHX, SLC6A8, CPOX, PPOX, FECH, CLN3, TPP1, GLRX5, ASL, APTX, PMM2, MGAT2, SLC25A20, SLC22A5, ASS1, SLC3A1, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CBS, L2HGDH, NAGS, SLC25A15, IVD, OXCT1, GALC, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFS1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, ISCU, CTSA, MPV17, OAT, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, LPIN1, HEXB, ALDH5A1, SUOX, GM2A, HEXA, TCN2, LMBRD1, MMADHC, XDH, ABCD1, PHKA1, TAZ, TIMM8A, PDHA1, OTC, AGPS, D2HGDH, ALG3, MPI, TYMP, ALG6, SLC35A1, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, ALG2, LDB3, MYOT, ANO5, CLCNKB, BSND, SLC12A3, UMOD, HNF4A, PDX1, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, GFM1, MPDU1, TK2, ACADSB, CTSD, POLG2, PNPLA2, SLC25A3, TUSC3, COG8, COG1, ACAD8, GYS1, RFT1, COQ8A, SUCLA2, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, TMEM126A, PHKG2, CAVIN1, IDH2, G6PC, PYGL, TAT, HMGCL, FAH, PHKA2, NFU1, SARS2, DHDDS, TMEM70, PDHB, ACSF3, BOLA3, DGUOK, DNM1L, AGK, LIAS, DDOST, DHODH, COQ6, PDSS1, PDSS2, COQ9, SMPD1, FH, OPA3, HADHA, MFN2, SLC25A13, ALAS2, NDUFAF2, RRM2B, FOXRED1, GCK, SLC25A4, POLG, DLD, HPRT1, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, GLB1, GNPTAB, PSAP, WFS1, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, SLC37A4, MTR, HNF1B, AMN, COL2A1, PPARG, MMACHC, HNF1A, ADSL, GAA, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATP7B, BTD, HLCS, ARG1, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, MCCC2, MCCC1, MTHFR, HFE Specificity 1 % Genes 25 %
Long QT syndrome type VII. By Bioarray in Spain. KCNJ2 Specificity 100 % Genes 25 %
Long QT syndrome type VII. By Bioarray in Spain. KCNJ2 Specificity 100 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By Genomics and Pathology Services Washington University in St. Louis in United States. CASQ2, CALM1, RYR2, ANK2, KCNJ2 Specificity 20 % Genes 25 %
Catecholaminergic Polymorphic Ventricular Tachycardia NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CALM3, CASQ2, TRDN, CALM1, RYR2, KCNJ2 Specificity 17 % Genes 25 %
KCNJ2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNJ2 Specificity 100 % Genes 25 %
Ventricular Tachycardia, Catecholaminergic Polymorphic Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 15 % Genes 25 %
Andersen-Tawil Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNJ2 Specificity 100 % Genes 25 %
KCNJ2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNJ2 Specificity 100 % Genes 25 %
LONG QT SYNDROME, ANDERSEN-TAWIL SYNDROME (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. KCNJ2 Specificity 100 % Genes 25 %
PERIODIC PARALYSIS, HYPOKALEMIC. By Laboratorio de Genetica Clinica SL in Spain. KCNJ18, KCNJ2, CACNA1S, SCN4A Specificity 25 % Genes 25 %
ANDERSEN-TAWIL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNJ2 Specificity 100 % Genes 25 %
Short QT Syndrome Type 3 , Sequencing KCNJ2 Gene. By Reference Laboratory Genetics in Spain. KCNJ2 Specificity 100 % Genes 25 %
Andersen-Tawil Syndrome , Sequencing KCNJ2 Gene. By Reference Laboratory Genetics in Spain. KCNJ2 Specificity 100 % Genes 25 %
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. GJA5, NPPA, NUP155, KCNA5, SCN4B, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, SCN5A, SCN1B, KCNJ2 Specificity 16 % Genes 50 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR Specificity 5 % Genes 25 %
Phosphorus Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 25 %
Long QT Syndrome: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNE1, KCNJ2, CAV3 Specificity 9 % Genes 25 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, CEMIP, RIPOR2, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, ACTB, SALL1, TBX1, KCNJ10, NR2F1, TBC1D24, COL4A5, SLC12A1, BSND, COL4A4, FGFR1, PMP22, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, SLC22A4, ALMS1, MANBA, AIFM1, TIMM8A, MYO7A, CISD2, KARS, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 25 %
NGS Hearing Loss Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000548231 complete gene list MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, MT-TS1, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, HGF, CLPP, EDN3, GIPC3, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, MAN2B1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, EYA1, USH1C, USH1G Specificity 2 % Genes 25 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TJP2, S1PR2, SLC26A5, ROR1, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CDC14A, CD164, ATP2B2, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, MCM2, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, TCOF1, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, BDP1, ADCY1, ACTG1, TBX1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, FGFR1, MT-TL1, PEX1, COL4A3, MET, FGFR2, POU3F4, GJB6, GJB2, SLC22A4, ALMS1, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, OPA1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, TWNK, USH1C, USH1G Specificity 1 % Genes 25 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DNMT1, DIAPH1, NLRP3, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, COL9A1, CCDC50, CLDN14, COCH, CACNA1D, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, PITX2, FOXC1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 25 %
Beckwith-Wiedemann Syndrome. By Genetics Laboratory Shodair Children's Hospital in United States. H19, KCNQ1 Specificity 50 % Genes 25 %
KCNQ1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNQ1 Specificity 100 % Genes 25 %
OtoGenome Test for Hearing Loss (110 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9 , (...) View the complete list with 90 more genes Panel GTR000509148 complete gene list CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, ESRRB, GSDME, CDC14A, CD164, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, MT-TS1, STRC, SOX10, SERPINB6, SNAI2, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, HARS2, ALMS1, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 1 % Genes 25 %
KCNQ1 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1 Specificity 100 % Genes 25 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, LARS2, TMPRSS3, TECTA, SLC4A11, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, MARVELD2, OSBPL2, PJVK, OTOF, ILDR1, COL11A2, COL11A1, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, CABP2, CIB2, ATP6V1B1, ATP6V1B2, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, HARS2, ALMS1, TIMM8A, MYO7A, CISD2, SUCLA2, MSRB3, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, WFS1, HSD17B4, EYA4, PDZD7, COL2A1, EYA1, BCS1L, USH1C, USH1G, ABHD12 Specificity 1 % Genes 25 %
Long QT Syndrome 1 (sequence analysis of KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 25 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 25 %
Long QT syndrome 1 (LQT1, deletion/duplication analysis on KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 25 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, OTOG, NLRP3, POLR1C, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, HGF, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ACTG1, KCNJ10, COL4A5, SLC12A1, BSND, COL4A4, COL4A3, CDKN1C, POU3F4, GJB6, GJB2, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, EYA4, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 1 % Genes 25 %
Jervell and Lange-Nielsen syndrome (sequence analysis of KCNQ1 gene). By CGC Genetics in Portugal. KCNQ1 Specificity 100 % Genes 25 %
Jervell and Lange-Nielsen syndrome (NGS panel of 2 genes). By CGC Genetics in Portugal. KCNQ1, KCNE1 Specificity 50 % Genes 25 %
Jervell and Lange-Nielsen syndrome (NGS panel of 2 genes). By CGC Genetics in Portugal. KCNQ1, KCNE1 Specificity 50 % Genes 25 %
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene. By PreventionGenetics PreventionGenetics in United States. KCNQ1 Specificity 100 % Genes 25 %
Jervell and Lange-Nielsen syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 25 %
Long QT syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 25 %
Short QT syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 25 %
Atrial fibrillation type 3. By Centogene AG - the Rare Disease Company in Germany. KCNQ1 Specificity 100 % Genes 25 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, KCNJ10, COL4A5, BSND, COL4A4, COL4A3, CDKN1C, CHD7, ALMS1, MANBA, TIMM8A, MYO7A, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 25 %
Long QT syndrome 1. By Innovagenomics Innovagenomics S.L in Spain. KCNQ1 Specificity 100 % Genes 25 %
QT syndrome, KCNQ1. By GGA - Galil Genetic Analysis in Israel. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1-Related Familial Atrial Fibrillation. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 25 %
Long QT Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 25 %
Short QT Syndrome 2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNQ1 Specificity 100 % Genes 25 %
Jervell and Lange-Nielson Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. KCNQ1, KCNE1 Specificity 50 % Genes 25 %
Long QT syndrome, KCNQ1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1 gene sequencing. By Health in Code in Spain. KCNQ1 Specificity 100 % Genes 25 %
Short QT Syndrome 2. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1-Related Familial Atrial Fibrillation. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 25 %
Long QT Syndrome 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. KCNQ1 Specificity 100 % Genes 25 %
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. IGF2, KCNQ1OT1, H19, KCNQ1, CDKN1C Specificity 20 % Genes 25 %
Long QT syndrome type 1: KCNQ1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNQ1 Specificity 100 % Genes 25 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SOX10, SERPINB6, SLC17A8, SIX5, P2RX2, KCNQ4, EDNRB, PAX3, DCDC2, DNMT1, DIAPH1, OTOG, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL4A6, HOMER2, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, CLIC5, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CIB2, ATP6V1B1, ADCY1, ACTG1, SALL1, KCNJ10, TBC1D24, COL4A5, BSND, COL4A4, COL4A3, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ALMS1, ABHD5, AIFM1, TIMM8A, MYO7A, CISD2, KARS, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, OPA1, HSD17B4, EYA4, COL2A1, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 1 % Genes 25 %
Hearing Loss: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...) View the complete list with 71 more genes Panel GTR000560677 complete gene list MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SERPINB6, SLC17A8, KCNQ4, DNMT1, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, HGF, GIPC3, CCDC50, CLDN14, COCH, CIB2, ATP6V1B1, ACTG1, SALL1, KCNJ10, COL4A5, BSND, POU3F4, GJB6, GJB2, CHD7, FGFR3, ARSB, HARS2, ABHD5, TIMM8A, MYO7A, CISD2, MSRB3, DIABLO, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, PITX2, FOXC1, WFS1, HSD17B4, EYA4, EYA1, BTD, USH1C, USH1G, ABHD12 Specificity 2 % Genes 25 %
Hearing Loss NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2 , (...) View the complete list with 83 more genes Panel GTR000510709 complete gene list MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, ATP2B2, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, TMPRSS3, TECTA, SLC4A11, SOX10, SERPINB6, SLC17A8, SNAI2, ESPN, KCNQ4, EDNRB, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, EDN3, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ACTG1, ACTB, KCNJ10, BSND, PMP22, POU3F4, GJB6, GJB2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, JAG1, WFS1, TRMU, EYA4, PDZD7, EYA1, BCS1L, USH1C, USH1G Specificity 1 % Genes 25 %
Jervell and Lange-Nielsen Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. KCNQ1, KCNE1 Specificity 50 % Genes 25 %
KCNQ1. By Fulgent Genetics Fulgent Genetics in United States. KCNQ1 Specificity 100 % Genes 25 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5, SEMA3E, POU4F3, PEX6, OTOA, MYH9, MYH14, MIR96, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, CHSY1, CDC14A, CD164, TMC1, TNC, SMPX, SLITRK6, SIX1, RDX, KCNQ1, KCNE1, PRPS1, LARS2, RIPOR2, TMPRSS3, TECTA, TCOF1, SLC19A2, STRC, SOX10, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, PAX3, DCDC2, ILDR1, CRYM, COL11A2, COL11A1, COL9A2, COL4A6, HOMER2, HOXB1, GRHL2, MYO15A, MYO6, MYO3A, EPS8, HGF, CLPP, EDN3, GIPC3, DLX5, CLIC5, COL9A3, COL9A1, CCDC50, CLDN14, COCH, CABP2, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, BDP1, ADCY1, ACTG1, SALL1, KCNJ10, SPATA5, TBC1D24, SLC33A1, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, MET, CDKN1C, POU3F4, GJB6, GJB2, CHD7, FGFR3, HARS2, ALMS1, SUCLG1, MAN2B1, MANBA, AIFM1, TIMM8A, MYO7A, SUCLA2, KARS, MSRB3, DIABLO, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, TRMU, HSD17B4, EYA4, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, DNMT1, DIAPH1, OTOG, NLRP3, PNPT1, POLR1C, MARVELD2, OSBPL2, PJVK, DSPP, OTOF, USH1G, ABHD12 Specificity 1 % Genes 25 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, LARS2, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, DNMT1, NLRP3, POLR1C, COL11A2, COL11A1, COL9A2, COL4A6, HOXB1, CLPP, EDN3, DLX5, COL9A3, COL9A1, CACNA1D, CD151, CIB2, ATP6V1B1, ATP6V1B2, ACTG1, SALL1, KCNJ10, COL4A5, BSND, COL4A4, PEX1, COL4A3, SMAD4, CDKN1C, CHD7, HARS2, ALMS1, MAN2B1, MANBA, TIMM8A, MYO7A, HARS, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, WFS1, PDZD7, TYR, COL2A1, EYA1, TWNK, BCS1L, BTD, ANKH, USH1C, USH1G, ABHD12 Specificity 2 % Genes 25 %
Long QT syndrome type I. By Bioarray in Spain. KCNQ1 Specificity 100 % Genes 25 %
Long QT syndrome type I. By Bioarray in Spain. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNQ1 Specificity 100 % Genes 25 %
Long QT Syndrome 1 (KCNQ1) Targeted Testing. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNQ1 Specificity 100 % Genes 25 %
KCNQ1 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNQ1 Specificity 100 % Genes 25 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, CEMIP, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, STRC, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ATP6V1B2, ACTG1, ACTB, KCNJ10, NR2F1, BSND, MT-TK, MT-TL1, GJB1, PMP22, POU3F4, GJB6, GJB2, FGFR3, SOX2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, JAG1, WFS1, EYA4, PDZD7, BCS1L, USH1C, USH1G Specificity 1 % Genes 25 %
LONG QT SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME (AUTOSOMAL RECESSIVE). By Laboratorio de Genetica Clinica SL in Spain. KCNQ1, KCNE1 Specificity 50 % Genes 25 %
Short QT Syndrome Type 2 , Sequencing KCNQ1 Gene. By Reference Laboratory Genetics in Spain. KCNQ1 Specificity 100 % Genes 25 %
Long QT Syndrome Type 1 , Sequencing KCNQ1 Gene. By Reference Laboratory Genetics in Spain. KCNQ1 Specificity 100 % Genes 25 %
Long QT syndrome 1. By Labor Dr. Wisplinghoff in Germany. KCNQ1 Specificity 100 % Genes 25 %
Jervell and Lange-Nielsen syndrome 1. By Labor Dr. Wisplinghoff in Germany. KCNQ1 Specificity 100 % Genes 25 %
Jervell and Lange-Nielsen Syndrome: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. KCNQ1, KCNE1 Specificity 50 % Genes 25 %

Alternate names

Short Qt Syndrome 1; Sqt1 Is also known as ;sqts.

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