—
Based on the latest data available Tibial Muscular Dystrophy, Tardive; Tmd have a estimated prevalence of 6 per 100k
worldwide.
| Panel Name, Specifity and genes Tested/covered |
Distal Myopathy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc in United States.
GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3
Specificity
6 %
Genes
50 %
|
Myofibrillar Myopathy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc in United States.
CRYAB, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON
Specificity
12 %
Genes
50 %
|
Congenital Myopathy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc in United States.
TRIM32, NEB, DNM2, TTN, MYH7, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1 , (...)
View the complete list with 1 more genes
TRIM32, NEB, DNM2, TTN, MYH7, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1
Specificity
5 %
Genes
50 %
|
Limb Girdle Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc in United States.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 3 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
50 %
|
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc in United States.
TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1 , (...)
View the complete list with 13 more genes
TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1
Specificity
4 %
Genes
50 %
|
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)
View the complete list with 87 more genes
TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, LAMP2, A2ML1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNA5, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA
Specificity
1 %
Genes
50 %
|
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)
View the complete list with 124 more genes
ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1, TYMP, PHKA1, CHAT, SUCLG1, PYGM, PMM2, MGME1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, FIG4, TRPV4, HSPB8, HSPB1, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, SETX, DCTN1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, DNMT1, CHRNG, LAMP2, LAS1L, PLEKHG5, HINT1, GAN, FBXL4, AMPD1, COL12A1, GLE1, KLHL41, LIMS2, MYF6, TNPO3, TNNI2, MTMR14, HNRNPDL, SLC5A7, TOR1AIP1, POMK, STAC3, SPEG, LMOD3, GMPPB
Specificity
1 %
Genes
50 %
|
Dilated & Arrhythmogenic Cardiomyopathies Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)
View the complete list with 31 more genes
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, PKP2, RYR2, TRDN, CASQ2, NEBL, ACTC1, LAMA4, PRDM16, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL
Specificity
2 %
Genes
50 %
|
Hypertrophic Cardiomyopathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
TTR, RAF1, GLA, PTPN11, TTN, MYH7, MYBPC3, LAMP2, PKP2, PDLIM3, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, TPM1, TNNT2, MYOZ2 , (...)
View the complete list with 4 more genes
TTR, RAF1, GLA, PTPN11, TTN, MYH7, MYBPC3, LAMP2, PKP2, PDLIM3, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, TPM1, TNNT2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3
Specificity
5 %
Genes
50 %
|
Dilated cardiomyopathy - full panel.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.
TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2 , (...)
View the complete list with 5 more genes
TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, CTF1
Specificity
4 %
Genes
50 %
|
Dilated cardiomyopathy - familial variant analysis.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.
TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2 , (...)
View the complete list with 5 more genes
TAZ, LMNA, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, CTF1
Specificity
4 %
Genes
50 %
|
Pan-cardiomyopathy panel.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.
TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2 , (...)
View the complete list with 25 more genes
TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2, CASQ2, ACTC1, MYLK2, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, CTF1, FHL2
Specificity
3 %
Genes
50 %
|
Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)
View the complete list with 92 more genes
TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, MAP2K2, CBL, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KCNE1, KCNQ1, MED12, CACNA1C, LAMP2, SPRED1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, AKAP9, SCN4B, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, OBSCN, TXNRD2, TMPO
Specificity
1 %
Genes
50 %
|
Dilated Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)
View the complete list with 24 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3, ILK, NEBL, ACTC1, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, VCL, CTF1, TXNRD2, TMPO
Specificity
3 %
Genes
50 %
|
Hypertrophic Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
TTR, GAA, RAF1, SCO2, COX15, SURF1, FXN, GLA, PTPN11, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1 , (...)
View the complete list with 16 more genes
TTR, GAA, RAF1, SCO2, COX15, SURF1, FXN, GLA, PTPN11, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, OBSCN
Specificity
3 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Cardiomyopathy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
DSP, LMNA, TTN, MYH7, MYBPC3, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
9 %
Genes
50 %
|
Comprehensive Neuromuscular Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)
View the complete list with 59 more genes
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14
Specificity
2 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COL6A2, COL6A3, COL6A1
Specificity
3 %
Genes
50 %
|
Arrhymogenic Right Ventricular Cardiomyopathy Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
50 %
|
Dilated Cardiomyopathy Panel (30 genes).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
CRYAB, TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1, TNNI3 , (...)
View the complete list with 10 more genes
CRYAB, TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL
Specificity
4 %
Genes
50 %
|
Comprehensive Cardiomyopathy Panel (37 genes).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
TTR, CRYAB, SCO2, TAZ, SURF1, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)
View the complete list with 17 more genes
TTR, CRYAB, SCO2, TAZ, SURF1, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, MYL2, MYL3, VCL
Specificity
3 %
Genes
50 %
|
TITIN Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
TTN
Specificity
100 %
Genes
50 %
|
DCM and DMD related Cardiomyopathy.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
CRYAB, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1 , (...)
View the complete list with 11 more genes
CRYAB, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL
Specificity
4 %
Genes
50 %
|
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)
View the complete list with 91 more genes
GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, FKRP, CAV3, DYSF, SCN4A, LAMB2, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, TCAP, SGCD, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, LAMP2, FKBP14, TNXB, CHST14, MYL2, COL12A1, KLHL41, LIMS2, MYF6, TNPO3, HNRNPDL, POMK, STAC3, SPEG, LMOD3, GMPPB, STIM1, ORAI1, COL13A1, HACD1, SYT2, PREPL, LRP4, ALG14
Specificity
1 %
Genes
50 %
|
Congenital Myopathy Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)
View the complete list with 8 more genes
HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, CHKB, COL12A1, KLHL41, MYF6, STAC3, SPEG, LMOD3, HACD1
Specificity
4 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)
View the complete list with 11 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LIMS2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
50 %
|
Congenital Myopathy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)
View the complete list with 8 more genes
HRAS, NEB, DNM2, SCN4A, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, CHKB, COL12A1, KLHL41, MYF6, STAC3, SPEG, LMOD3, HACD1
Specificity
4 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)
View the complete list with 11 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LIMS2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
50 %
|
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)
View the complete list with 33 more genes
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, TRDN, CASQ2, NEBL, ACTC1, PRDM16, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CHRM2, CAVIN4
Specificity
2 %
Genes
50 %
|
Pan Cardiomyopathy Panel (62 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP , (...)
View the complete list with 41 more genes
TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, TRDN, CASQ2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, LAMA4, PRDM16, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, FHL2, CHRM2, CAVIN4
Specificity
2 %
Genes
50 %
|
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
TTR, GAA, EYA4, DSP, SLC25A4, SCO2, TAZ, COX15, FXN, DMD, GLA, FKTN, SGCA, SGCB, SGCG, LMNA, FKRP, CAV3, TTN, DES , (...)
View the complete list with 65 more genes
TTR, GAA, EYA4, DSP, SLC25A4, SCO2, TAZ, COX15, FXN, DMD, GLA, FKTN, SGCA, SGCB, SGCG, LMNA, FKRP, CAV3, TTN, DES, MYH7, MYOT, LDB3, MYBPC3, SYNE1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2, AKAP9, SCN4B, ILK, ACTC1, MYLK2, TGFB3, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, OBSCN, TMPO, KLHL3, CORIN, MYH10
Specificity
2 %
Genes
50 %
|
Comprehensive Cardiomyopathy Panel.
By GeneDx in United States.
TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1 , (...)
View the complete list with 56 more genes
TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1, MT-ND6, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ABCC9, PKP2, RYR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, LAMA4, ANKRD1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, MT-ND5, TMPO, MT-TG, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2
Specificity
2 %
Genes
50 %
|
DCM/LVNC Sequencing Panel.
By GeneDx in United States.
TTR, TAZ, LMNA, MT-TK, MT-ND1, MT-ND6, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ACTC1, ANKRD1 , (...)
View the complete list with 17 more genes
TTR, TAZ, LMNA, MT-TK, MT-ND1, MT-ND6, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, SCN5A, MT-TS1, MT-TS2, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, PLN, NEXN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, MT-ND5, MT-TI, MT-TH, MT-TQ, MT-TD, MT-TM, MT-TL2
Specificity
3 %
Genes
50 %
|
CardioNext with TTN.
By Ambry Genetics in United States.
TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3 , (...)
View the complete list with 65 more genes
TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, TBX1, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACTC1, TGFB3, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, TXNRD2, TMPO, GATA4, TBX20
Specificity
2 %
Genes
50 %
|
CMNext with TTN.
By Ambry Genetics in United States.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD , (...)
View the complete list with 35 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SCN5A, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TGFB3, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TXNRD2, TMPO, TBX20
Specificity
2 %
Genes
50 %
|
CustomNext: Cardio.
By Ambry Genetics in United States.
TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)
View the complete list with 86 more genes
TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, FLNA, CACNA2D1, TBX1, KCNE1, KCNQ1, MED12, CACNA1C, LAMP2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACTC1, TGFB3, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, PRKG1, TBX5, TXNRD2, TMPO, GATA4, TBX20
Specificity
1 %
Genes
50 %
|
DCMNext with TTN.
By Ambry Genetics in United States.
TTR, EYA4, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, LAMP2, ABCC9, ACTC1, LAMA4, NKX2-5 , (...)
View the complete list with 16 more genes
TTR, EYA4, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, LAMP2, ABCC9, ACTC1, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, TXNRD2, TMPO, TBX20
Specificity
3 %
Genes
50 %
|
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)
View the complete list with 31 more genes
TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, LAMP2, PKP2, ACTC1, LAMA4, PRDM16, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, FHL2, CTNNA3, ALPK3, MIB1, CALR3
Specificity
2 %
Genes
50 %
|
TTN mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
TTN
Specificity
100 %
Genes
50 %
|
TTN. Sequencing of the exons: 18, 186, 308, 342, 356 and 363.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
TTN
Specificity
100 %
Genes
50 %
|
Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes).
By CGC Genetics in Portugal.
GLA, CAV3, TTN, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, CSRP3, MYL2 , (...)
View the complete list with 2 more genes
GLA, CAV3, TTN, MYH7, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, MYOZ2, CSRP3, MYL2, MYL3, VCL
Specificity
5 %
Genes
50 %
|
Dilated cardiomyopathy (CMD, NGS panel for 22 genes).
By CGC Genetics in Portugal.
LMNA, TTN, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2 , (...)
View the complete list with 2 more genes
LMNA, TTN, DES, MYH7, LDB3, MYBPC3, TCAP, SGCD, ABCC9, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL
Specificity
5 %
Genes
50 %
|
Hereditary proximal myopathy with early respiratory failure (sequence analysis of TTN gene).
By CGC Genetics in Portugal.
TTN
Specificity
100 %
Genes
50 %
|
Tibial muscular dystrophy (sequence analysis of exon 363 (Mex6) of TTN gene).
By CGC Genetics in Portugal.
TTN
Specificity
100 %
Genes
50 %
|
Limb-girdle muscular dystrophies (NGS panel for 26 genes).
By CGC Genetics in Portugal.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, TNPO3, HNRNPDL, GMPPB
Specificity
4 %
Genes
50 %
|
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).
By CGC Genetics in Portugal.
DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C , (...)
View the complete list with 39 more genes
DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, ALG10, TNNI3K
Specificity
2 %
Genes
50 %
|
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).
By CGC Genetics in Portugal.
DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)
View the complete list with 16 more genes
DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
3 %
Genes
50 %
|
Congenital muscular dystrophies (NGS panel for 31 genes).
By CGC Genetics in Portugal.
CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)
View the complete list with 11 more genes
CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, GMPPB
Specificity
4 %
Genes
50 %
|
Limb-girdle muscular dystrophy type 2J (LGMD2J, sequence analysis of TTN gene).
By CGC Genetics in Portugal.
TTN
Specificity
100 %
Genes
50 %
|
Cardiomyopathy, familial hypertrophic (sequence analysis of TTN gene).
By CGC Genetics in Portugal.
TTN
Specificity
100 %
Genes
50 %
|
Cardiomyopathy, familial hypertrophic (sequence analysis of TTN gene).
By CGC Genetics in Portugal.
TTN
Specificity
100 %
Genes
50 %
|
tibial muscular dystrophy.
By Laboratory of Genetics HUSLAB in Finland.
TTN
Specificity
100 %
Genes
50 %
|
Distal Hereditary Myopathy Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
50 %
|
Congenital Myopathy Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1 , (...)
View the complete list with 10 more genes
NEB, DNM2, LMNA, TTN, KLHL9, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, COL6A2, COL6A3, COL6A1, COL12A1, KLHL41, STAC3, LMOD3, MICU1, MYO18B
Specificity
4 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)
View the complete list with 13 more genes
GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
4 %
Genes
50 %
|
Comprehensive Cardiology Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)
View the complete list with 144 more genes
HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1, COL5A2, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SMAD4, PRKAR1A, FKTN, SGCG, HSPB8, LMNA, APOE, FKRP, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, SELENON, RYR1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, MYO6, KCNE1, KCNQ1, CACNA1C, LAMP2, NODAL, TGFB2, NOTCH1, SMAD3, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, LTBP2, EFEMP2, KCNA5, PDLIM3, ILK, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, DPP6, SALL4, TBX5, FHL2, ABCG5, ABCG8, TMPO, ZIC3, CRELD1, CETP, LDLRAP1, APOA5, LPL, LMF1, APOC2, GPIHBP1, NPPA, GJA5, APOA4, CREB3L3, CAVIN4, MIB1, CALR3, TBX3, KLF10, ZHX3, TRIM63, SREBF2, ZBTB17
Specificity
1 %
Genes
50 %
|
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TTR, GAA, RAF1, SCO2, GLA, KRAS, PTPN11, PRKAR1A, CAV3, TTN, MYH7, LDB3, BAG3, FHL1, MYBPC3, TCAP, MYO6, LAMP2, RYR2, ACTC1 , (...)
View the complete list with 18 more genes
TTR, GAA, RAF1, SCO2, GLA, KRAS, PTPN11, PRKAR1A, CAV3, TTN, MYH7, LDB3, BAG3, FHL1, MYBPC3, TCAP, MYO6, LAMP2, RYR2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL
Specificity
3 %
Genes
50 %
|
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A , (...)
View the complete list with 27 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, PDLIM3, ILK, ACTC1, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, DSC2, VCL, FHL2, TMPO
Specificity
3 %
Genes
50 %
|
Pan Cardiomyopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)
View the complete list with 62 more genes
TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, PRKAR1A, FKTN, SGCG, LMNA, FKRP, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, MYO6, LAMP2, TGFBR2, ABCC9, PKP2, RYR2, PDLIM3, ILK, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, DPP6, FHL2, TMPO, CAVIN4, MIB1, CALR3
Specificity
2 %
Genes
50 %
|
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312).
By PreventionGenetics PreventionGenetics in United States.
TTN
Specificity
100 %
Genes
50 %
|
Comprehensive Neuromuscular Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)
View the complete list with 104 more genes
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B
Specificity
1 %
Genes
50 %
|
Tibial muscular dystrophy.
By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland.
TTN
Specificity
100 %
Genes
50 %
|
Salih myopathy.
By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland.
TTN
Specificity
100 %
Genes
50 %
|
Distal Myopathy NGS panel.
By Connective Tissue Gene Tests in United States.
GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
50 %
|
Distal Myopathy Comprehensive panel.
By Connective Tissue Gene Tests in United States.
GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
50 %
|
Distal Myopathy Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
50 %
|
Limb girdle muscular dystrophy Comprehensive panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
50 %
|
Limb girdle muscular dystrophy Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
50 %
|
Limb girdle muscular dystrophy NGS panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
50 %
|
Hypertrophic cardiomyopathy - different panels.
By Institute of Human Genetics Cologne University in Germany.
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)
View the complete list with 45 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, PHKA1, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, SOS2, RIT1, MAP2K2, NF1, TTN, DES, MYH7, BSCL2, FHL1, MYBPC3, ACTA1, LZTR1, LAMP2, RASA2, RRAS, A2ML1, ACTC1, TNNI3, PRKAG2, PLN, TPM1, TNNT2, CSRP3, MYL2, MYL3, AGPAT2
Specificity
2 %
Genes
50 %
|
Histological Myofibrillar Myopathy.
By MGZ Medical Genetics Center in Germany.
GNE, CRYAB, VCP, LMNA, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, PLEC
Specificity
9 %
Genes
50 %
|
Muscle Pain - fluctuating CK - Rhabdomyolysis.
By MGZ Medical Genetics Center in Germany.
TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A , (...)
View the complete list with 6 more genes
TTR, ACADM, ACADS, ACADVL, GAA, CPT2, HADHA, HADHB, LPIN1, PYGM, ETFB, ETFA, ETFDH, SEPT9, DMD, DNM2, CLCN1, FKRP, DYSF, SCN4A, TTN, ANO5, CACNA1S, RYR1, LAMP2, AMPD1
Specificity
4 %
Genes
50 %
|
Muscular Dystrophy: Limb Girdle - autosomal recessive.
By MGZ Medical Genetics Center in Germany.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
7 %
Genes
50 %
|
Newborn: Cardiomyopathy as presenting sign.
By MGZ Medical Genetics Center in Germany.
ACAD9, ACADM, ACADS, ACADVL, GAA, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, LPIN1, COX15, CPT1A, GBE1, SLC22A5, SLC25A20, SDHA , (...)
View the complete list with 4 more genes
ACAD9, ACADM, ACADS, ACADVL, GAA, CPT2, MTO1, AGK, TMEM70, SLC25A3, GFM1, SCO2, TAZ, LPIN1, COX15, CPT1A, GBE1, SLC22A5, SLC25A20, SDHA, LMNA, TTN, LAMP2, AARS
Specificity
5 %
Genes
50 %
|
Heart Diseases - panels.
By MGZ Medical Genetics Center in Germany.
TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)
View the complete list with 137 more genes
TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70, SLC25A3, PNPLA2, GFM1, SCO2, TAZ, COX15, CPT1A, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SDHA, BRAF, CHD7, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, POMGNT1, SGCG, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, KCNJ2, CHKB, LARGE1, KCNH2, SCN5A, KMT2D, ZEB2, TBX1, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NODAL, FOXH1, NOTCH1, TGFBR1, TGFBR2, ABCC9, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KDM6A, DNAH11, BMPR2, ACTC1, TGFB3, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, GJA1, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, NOTCH2, ZFPM2, ADAMTSL4, GATA5, TBX20, SMAD6, TAB2, MED13L, NR2F2, NKX2-6, TLL1
Specificity
1 %
Genes
50 %
|
Muscle Disease with CNS Involvement.
By MGZ Medical Genetics Center in Germany.
FKTN, POMGNT1, FKRP, TTN, MYH7, CCDC78, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 6 more genes
FKTN, POMGNT1, FKRP, TTN, MYH7, CCDC78, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, RXYLT1, LARGE1, B3GALNT2, SNAP25, LAMP2, POMK, STAC3, GMPPB, MICU1
Specificity
4 %
Genes
50 %
|
Newborn: “Floppy Infant “.
By MGZ Medical Genetics Center in Germany.
GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)
View the complete list with 53 more genes
GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, FKRP, UBA1, SCN4A, TTN, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, IGHMBP2, SYNE1, PLEC, POMT2, POMT1, TCAP, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, CUL4B, LAMP2, LAS1L, FKBP14, POMK, GMPPB, ALG14, SLC52A3
Specificity
2 %
Genes
50 %
|
Muscle Disease with Distal Myopathy.
By MGZ Medical Genetics Center in Germany.
AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1 , (...)
View the complete list with 8 more genes
AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, CCDC78, BICD2, TCAP, AGRN, CHRNA1, CHRND, CHRNB1, MYH14
Specificity
4 %
Genes
50 %
|
Muscle Weakness (Myopathy, Muscular Dystrophy).
By MGZ Medical Genetics Center in Germany.
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)
View the complete list with 159 more genes
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5
Specificity
1 %
Genes
50 %
|
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).
By MGZ Medical Genetics Center in Germany.
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)
View the complete list with 70 more genes
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, ACTA1, MYH2, MTM1, BICD2, DYNC1H1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, COLQ, GFPT1, CHRNA1, CHRND, CHRNB1, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, HNRNPU, LAMP2, HINT1, LIMS2, TNPO3, TOR1AIP1, GMPPB, HADH, STIM1
Specificity
2 %
Genes
50 %
|
Hereditary Myopathy with Early Respiratory Failure.
By FirmaLab in United States.
TTN
Specificity
100 %
Genes
50 %
|
Distal Myopathy Panel.
By FirmaLab in United States.
GNE, NEB, DNM2, CAV3, DYSF, TTN, MYH7, ANO5, MYOT, LDB3, MATR3
Specificity
10 %
Genes
50 %
|
Dilated Cardiomyopathy Sequential Panel.
By FirmaLab in United States.
LMNA, TTN, MYH7, SCN5A, ACTC1, TNNT2
Specificity
17 %
Genes
50 %
|
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel.
By FirmaLab in United States.
TRIM32, SGCA, SGCB, SGCG, CAPN3, FKRP, DYSF, SGCE, TTN, ANO5, TCAP
Specificity
10 %
Genes
50 %
|
TTN.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
TTN
Specificity
100 %
Genes
50 %
|
Tibial muscular dystrophy, tardive.
By Centogene AG - the Rare Disease Company in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Myopathy, early-onset with fatal cardiomyopathy.
By Centogene AG - the Rare Disease Company in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J.
By Centogene AG - the Rare Disease Company in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Cardiomyopathy, familial hypertrophic type 9.
By Centogene AG - the Rare Disease Company in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Cardiomyopathy, dilated type 1G.
By Centogene AG - the Rare Disease Company in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Limb-girdle muscular dystrophy panel.
By Centogene AG - the Rare Disease Company in Germany.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP , (...)
View the complete list with 1 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
50 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)
View the complete list with 1185 more genes
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
50 %
|
Congenital and Distal Myopathies Panel.
By CeGaT GmbH in Germany.
YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)
View the complete list with 53 more genes
YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, PLEC, SIL1, COL6A2, COL6A3, COL6A1, MYH14, LAMP2, FKBP14, ACVR1, DNA2, COL12A1, KLHL41, MYF6, MTMR14, STAC3, SPEG, LMOD3, CASQ1, STIM1, ORAI1, MICU1, HACD1, CHCHD10, VMA21, MSTN, HNRNPA2B1, HNRNPA1
Specificity
2 %
Genes
50 %
|
Muscular Dystrophies Panel.
By CeGaT GmbH in Germany.
CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)
View the complete list with 12 more genes
CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, ALG13, GMPPB
Specificity
4 %
Genes
50 %
|
Cardiomyopathy, hypertrophic Panel.
By CeGaT GmbH in Germany.
TTR, GLA, CAV3, TTN, MYH7, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN , (...)
View the complete list with 10 more genes
TTR, GLA, CAV3, TTN, MYH7, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, CALR3
Specificity
4 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophies Panel.
By CeGaT GmbH in Germany.
GAA, GNE, TRIM32, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
3 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.
By CeGaT GmbH in Germany.
DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
50 %
|
Limb girdle muscular dystrophy 2J.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
TTN
Specificity
100 %
Genes
50 %
|
TTN.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
TTN
Specificity
100 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.
By Asper Biogene Asper Biogene LLC in Estonia.
DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
50 %
|
Dilated Cardiomyopathy.
By Asper Biogene Asper Biogene LLC in Estonia.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9 , (...)
View the complete list with 22 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, DSC2, VCL, TMPO, TBX20
Specificity
3 %
Genes
50 %
|
Congenital Myopathy and Distal Myopathy NGS panel.
By Asper Biogene Asper Biogene LLC in Estonia.
GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)
View the complete list with 21 more genes
GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, CNTN1, CFL2, TPM2, TNNT1, MTM1, DNAJB6, COL6A3, COL6A1, COL12A1, KLHL41, MYF6, MTMR14, STAC3, LMOD3, MICU1
Specificity
3 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy.
By Asper Biogene Asper Biogene LLC in Estonia.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
50 %
|
Left Ventricular Non-Compactation Panel.
By Health in Code in Spain.
DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)
View the complete list with 16 more genes
DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2, ACTC1, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PLN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3, DTNA, MIB1
Specificity
3 %
Genes
50 %
|
Restrictive Cardiomyopathy Panel.
By Health in Code in Spain.
HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
50 %
|
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)
View the complete list with 193 more genes
HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1, FBN1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, DNAJC19, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, COX6B1, SLC22A5, PMM2, ALMS1, COL5A1, COL5A2, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, MAP2K2, CBL, SMAD4, ENG, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, NOTCH3, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, CACNA2D1, TBX1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, SPRED1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, PDLIM3, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, PRKG1, TBX5, GJA1, CTF1, FHL2, TXNRD2, TMPO, GATA4, CRELD1, CETP, PCSK9, APOB, APOA5, GATA6, NPPA, GJA5, AGPAT2, ANK3, OBSL1, SCN10A, CTNNA3, KCNE5, ADAMTSL4, APOC3, CAVIN4, TBX20, MIB1, CALR3, LRP6, KLF10, TRIM63, SMAD1, FOXD4, FHOD3
Specificity
1 %
Genes
50 %
|
Dilated Cardiomyopathy Panel.
By Health in Code in Spain.
HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)
View the complete list with 61 more genes
HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, LAMA2, SCN5A, LAMP2, KCNJ8, ABCC9, PKP2, RYR2, PDLIM3, NEBL, ACTC1, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, CTF1, FHL2, TXNRD2, TMPO, GATA4, GATA6, CAVIN4, TBX20, FOXD4, FHOD3
Specificity
2 %
Genes
50 %
|
Skeletal Myopathy Panel.
By Health in Code in Spain.
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA , (...)
View the complete list with 26 more genes
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, LAMA2, CACNA1C, LAMP2, KCNE3, TNNI3, PRKAG2, MYL2, MYL3, CAVIN4
Specificity
3 %
Genes
50 %
|
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)
View the complete list with 121 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNK3, KCNA5, PDLIM3, ACTC1, MYLK2, TGFB3, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, GJA1, CTF1, FHL2, GATA4, GATA6, NPPA, GJA5, AGPAT2, ANK3, OBSL1, SCN10A, CTNNA3, KCNE5, CAVIN4, CALR3, KLF10, TRIM63, FHOD3
Specificity
1 %
Genes
50 %
|
Cardiomyopathies Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)
View the complete list with 129 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, DNAJC19, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, TTN, DES, MYH7, FLNC, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TMEM43, EMD, TCAP, SGCD, KCNJ2, LAMA2, KCNH2, HCN4, SCN5A, FLNA, TBX1, KCNQ1, LAMP2, SPRED1, NOTCH1, SMAD3, ACTA2, MYH11, KCNJ8, ABCC9, PKP2, ANK2, RYR2, CASQ2, PDLIM3, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, TBX5, GJA1, CTF1, FHL2, TXNRD2, TMPO, GATA4, CRELD1, GATA6, GJA5, AGPAT2, OBSL1, CTNNA3, CAVIN4, TBX20, MIB1, CALR3, KLF10, TRIM63, FOXD4, FHOD3
Specificity
1 %
Genes
50 %
|
Congenital Heart Diseases Panel.
By Health in Code in Spain.
ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)
View the complete list with 19 more genes
ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1, NOTCH1, SMAD3, ACTA2, MYH11, KCNJ8, ACTC1, NKX2-5, ANKRD1, TNNI3, MYH6, NEXN, DTNA, TBX5, GJA1, GATA4, CRELD1, GATA6, GJA5, TBX20
Specificity
3 %
Genes
50 %
|
Arrythmogenic Cardiomyopathy Panel.
By Health in Code in Spain.
DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
6 %
Genes
50 %
|
Hypertrophic Cardiomyopathy Extended Panel.
By Health in Code in Spain.
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)
View the complete list with 70 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM, GFM1, COQ2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TCAP, LAMP2, KCNJ8, ANK2, RYR2, CASQ2, PDLIM3, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, CTF1, FHL2, AGPAT2, OBSL1, CAVIN4, CALR3, KLF10, TRIM63, FHOD3
Specificity
2 %
Genes
50 %
|
Arrhythmogenic cardiomyopathy.
By Health in Code in Spain.
DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, CTNNB1, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, PKP4, PERP , (...)
View the complete list with 1 more genes
DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, CTNNB1, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, PKP4, PERP, PPP1R13L
Specificity
5 %
Genes
50 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)
View the complete list with 360 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H
Specificity
1 %
Genes
50 %
|
Non-compaction cardiomyopathy.
By Health in Code in Spain.
DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)
View the complete list with 17 more genes
DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2, ACTC1, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PLN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3, DTNA, MIB1, NNT
Specificity
3 %
Genes
50 %
|
Skeletal myopathy Panel.
By Health in Code in Spain.
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS , (...)
View the complete list with 37 more genes
AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, LAMA2, CACNA1C, LAMP2, KCNE3, TNNI3, PRKAG2, MYL2, MYL3, TOR1AIP1, SPEG, XK, CAVIN4
Specificity
2 %
Genes
50 %
|
Dilated Cardiomyopathy Panel.
By Health in Code in Spain.
EYA4, DSP, CRYAB, DNAJC19, TAZ, ALMS1, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, BAG3, MYBPC3, ACTA1 , (...)
View the complete list with 19 more genes
EYA4, DSP, CRYAB, DNAJC19, TAZ, ALMS1, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, BAG3, MYBPC3, ACTA1, EMD, ABCC9, PKP2, ACTC1, ANKRD1, TNNC1, TNNI3, PLN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, FHL2, COL7A1, CHRM2, FHOD3
Specificity
3 %
Genes
50 %
|
Arrhythmia General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)
View the complete list with 198 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, CAPN3, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, MYH11, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNK3, KCNA5, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, NOS1AP, TBX5, GJA1, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, NPPA, GJA5, AGPAT2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, CALM3, TNNI3K, PKP4, KLF10, TRIM63, COA6, KCND2, MRPL44, NKX2-6, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, MYOM1, NNT, GREM2
Specificity
1 %
Genes
50 %
|
Hypertrophic cardiomyopathy extended panel.
By Health in Code in Spain.
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)
View the complete list with 84 more genes
TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, LMNA, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, TCAP, LZTR1, LAMP2, KCNJ8, ANK2, RYR2, CASQ2, PDLIM3, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, FHL2, OBSCN, AGPAT2, OBSL1, COA5, CAVIN4, CALR3, KLF10, TRIM63, COA6, MRPL44, FHOD3, MYOM1
Specificity
1 %
Genes
50 %
|
Resctrictive cardiomyopathy.
By Health in Code in Spain.
HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
50 %
|
Cardiomyopathies General Panel.
By Health in Code in Spain.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)
View the complete list with 153 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, OPA3, MTO1, MRPL3, LIAS, AGK, DNM1L, TMEM70, FAH, IDH2, MRPS22, SLC25A3, TSFM, DNAJC19, GFM1, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, FXN, COX6B1, SLC22A5, PMM2, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, FKTN, SGCA, SGCB, LMNA, PSEN2, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, LAMA2, KCNH2, HCN4, SCN5A, KCNQ1, CTNNB1, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NOTCH1, KCNJ8, ABCC9, PKP2, ANK2, RYR2, CASQ2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, VCL, FHL2, OBSCN, TXNRD2, TMPO, GATA4, GATA6, XK, COL7A1, AGPAT2, OBSL1, COA5, CTNNA3, GATA5, CHRM2, CAVIN4, TBX20, MIB1, CALR3, TNNI3K, PKP4, KLF10, TRIM63, COA6, MRPL44, FOXD4, FHOD3, PERP, PPP1R13L, MYOM1, NNT
Specificity
1 %
Genes
50 %
|
Invitae Arrhythmia Comprehensive Panel.
By Invitae in United States.
DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, ABCC9, CACNB2, GPD1L, PKP2, ANK2 , (...)
View the complete list with 19 more genes
DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, ABCC9, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, CASQ2, KCNA5, NKX2-5, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2, CALM3, MYL4
Specificity
3 %
Genes
50 %
|
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.
By Invitae in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)
View the complete list with 47 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, ABCC9, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, CASQ2, KCNA5, ACTC1, TGFB3, NKX2-5, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, CALM3, MYL4
Specificity
2 %
Genes
50 %
|
Invitae Arrhythmogenic Cardiomyopathy Panel.
By Invitae in United States.
DSP, LMNA, TTN, DES, FLNC, TMEM43, EMD, SCN5A, PKP2, RYR2, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
6 %
Genes
50 %
|
Invitae Cardiomyopathy Comprehensive Panel.
By Invitae in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)
View the complete list with 30 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, CACNA1C, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
2 %
Genes
50 %
|
Invitae Dilated Cardiomyopathy Panel.
By Invitae in United States.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, TMEM43 , (...)
View the complete list with 21 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
3 %
Genes
50 %
|
Invitae Comprehensive Neuromuscular Disorders Panel.
By Invitae in United States.
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)
View the complete list with 84 more genes
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21
Specificity
1 %
Genes
50 %
|
Invitae Comprehensive Muscular Dystrophy Panel.
By Invitae in United States.
GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)
View the complete list with 26 more genes
GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, TNPO3, POMK, GMPPB
Specificity
3 %
Genes
50 %
|
Invitae Inclusion Body Myopathy Panel.
By Invitae in United States.
GNE, VCP, TTN, MYH2
Specificity
25 %
Genes
50 %
|
Invitae Distal Myopathy Panel.
By Invitae in United States.
GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6
Specificity
6 %
Genes
50 %
|
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.
By Invitae in United States.
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)
View the complete list with 93 more genes
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, DNM2, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, MATR3, ATP2A1, BAG3, FHL1, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, TMEM43, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, HCN4, SCN5A, CACNA1C, LAMP2, FKBP14, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, VCL, STIM1
Specificity
1 %
Genes
50 %
|
Invitae Congenital Myopathy Panel.
By Invitae in United States.
NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3 , (...)
View the complete list with 6 more genes
NEB, DNM2, TTN, MYH7, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, COL6A2, COL6A3, COL6A1, FKBP14, MYPN, KLHL41, STAC3, LMOD3
Specificity
4 %
Genes
50 %
|
Invitae Centronuclear Myopathy Panel.
By Invitae in United States.
DNM2, TTN, RYR1, CCDC78, MTM1, BIN1
Specificity
17 %
Genes
50 %
|
Invitae Comprehensive Myopathy Panel.
By Invitae in United States.
CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)
View the complete list with 30 more genes
CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, DNAJB6, KCNJ2, COL6A2, COL6A3, COL6A1, FKBP14, MYPN, MYL2, KLHL41, STAC3, LMOD3, STIM1
Specificity
2 %
Genes
50 %
|
Invitae Limb-Girdle Muscular Dystrophy Panel.
By Invitae in United States.
GAA, TRIM32, PNPLA2, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)
View the complete list with 10 more genes
GAA, TRIM32, PNPLA2, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, TNPO3, POMK, GMPPB
Specificity
4 %
Genes
50 %
|
Dilated cardiomyopathy: TTN gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TTN
Specificity
100 %
Genes
50 %
|
CARDIOMYOPATHY HYPERTROPHIC PANEL.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
GLA, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, RYR2, PDLIM3, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2 , (...)
View the complete list with 6 more genes
GLA, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, RYR2, PDLIM3, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL
Specificity
4 %
Genes
50 %
|
CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
|
CARDIOMYOPATHY, DILATED (DCM.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, ANKRD1, TNNC1 , (...)
View the complete list with 12 more genes
TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, TMPO
Specificity
4 %
Genes
50 %
|
LIMB-GIRDLE MUSCULAR DYSTROPHY.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
50 %
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R..
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, DES, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
50 %
|
Myofibrillar myopathy.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TRIM32, CRYAB, LMNA, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, TPM3, DNAJB6
Specificity
8 %
Genes
50 %
|
TTN-Related Disorders: TTN Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTN
Specificity
100 %
Genes
50 %
|
TTN-Related Disorders: TTN Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTN
Specificity
100 %
Genes
50 %
|
Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, GLA, CAV3, TTN, MYH7, MYBPC3, LAMP2, ACTC1, TNNC1, TNNI3, MYH6, PRKAG2, MYPN, TPM1, TNNT2, JPH2, MYOZ2, MYL2, MYL3
Specificity
6 %
Genes
50 %
|
Dilated Cardiomyopathy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3 , (...)
View the complete list with 19 more genes
TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3, NEBL, ACTC1, LAMA4, PRDM16, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, VCL
Specificity
3 %
Genes
50 %
|
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)
View the complete list with 26 more genes
GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, RYR2, AMPD1, TNNI2, AMPD3
Specificity
3 %
Genes
50 %
|
Expanded Neuromuscular Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 58 more genes
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, AMPD3
Specificity
2 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COL6A2, COL6A3, COL6A1
Specificity
3 %
Genes
50 %
|
Comprehensive Cardiovascular: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)
View the complete list with 97 more genes
TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, ENG, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KCNE1, KCNQ1, MED12, CACNA1C, LAMP2, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TRPM4, KCNJ8, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, CAV1, KCNA5, BMPR2, PDLIM3, NEBL, ACTC1, MYLK2, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, FHL2, TMPO, NPPA, GJA5, CTNNA3
Specificity
1 %
Genes
50 %
|
Cardiomyopathy: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, GAA, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3 , (...)
View the complete list with 42 more genes
TTR, GAA, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, CASQ2, NEBL, ACTC1, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL
Specificity
2 %
Genes
50 %
|
Cardiomyopathy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA , (...)
View the complete list with 45 more genes
TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, CASQ2, PDLIM3, NEBL, ACTC1, LAMA4, PRDM16, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL
Specificity
2 %
Genes
50 %
|
Comprehensive Cardiovascular: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)
View the complete list with 86 more genes
TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, ENG, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KCNE1, KCNQ1, MED12, CACNA1C, LAMP2, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, KCNJ8, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, CAV1, BMPR2, PDLIM3, NEBL, ACTC1, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, FHL2, TMPO
Specificity
1 %
Genes
50 %
|
Dilated Cardiomyopathy: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)
View the complete list with 17 more genes
TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL, ACTC1, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, MYPN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, VCL
Specificity
3 %
Genes
50 %
|
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 57 more genes
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14
Specificity
2 %
Genes
50 %
|
Muscular Dystrophies NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1 , (...)
View the complete list with 10 more genes
TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, POMT2, POMT1, TCAP, SGCD, MMEL1
Specificity
4 %
Genes
50 %
|
Pan-Cardio NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)
View the complete list with 81 more genes
TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, SYNE1, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, CACNA2D1, TBX1, KCNE1, KCNQ1, CACNA1C, LAMP2, KCNJ8, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KCNA5, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, TBX5, CTF1, TXNRD2, TMPO, GATA4, NPPA, GJA5, CAVIN4, CALR3, MYOM1
Specificity
1 %
Genes
50 %
|
Neuromuscular NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)
View the complete list with 30 more genes
TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, PEX14, PEX3, PEX26, PEX12, PEX5, RYR2, AMPD1, TNNI2, AMPD3
Specificity
2 %
Genes
50 %
|
Sudden Death Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2 , (...)
View the complete list with 48 more genes
PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, TGFBR2, FBN2, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2, AKAP9, SCN4B, KCNA5, MYLK2, TGFB3, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, JPH2, MYOZ2, RBM20, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, TMPO, NPPA, GJA5, CALR3, LRP6
Specificity
2 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRIM32, PNPLA2, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, TCAP, SGCD, ISPD
Specificity
6 %
Genes
50 %
|
Distal Hereditary Myopathy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GNE, CRYAB, VCP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, LDB3, MATR3, FHL1, TCAP
Specificity
8 %
Genes
50 %
|
Dilated Cardiomyopathy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
DSP, CRYAB, TAZ, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, ACTC1, LAMA4, ANKRD1, TNNC1 , (...)
View the complete list with 12 more genes
DSP, CRYAB, TAZ, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, ACTC1, LAMA4, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
4 %
Genes
50 %
|
Hypertrophic Cardiomyopathy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES , (...)
View the complete list with 43 more genes
TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, LAMA4, ANKRD1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, TMPO
Specificity
2 %
Genes
50 %
|
TTN.
By Fulgent Genetics Fulgent Genetics in United States.
TTN
Specificity
100 %
Genes
50 %
|
Cardiomyopathy Panel.
By Blueprint Genetics in Finland.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)
View the complete list with 135 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1, AGK, TMEM70, PNPLA2, TSFM, DNAJC19, GFM1, PCCB, PCCA, SCO2, TAZ, COX15, GUSB, MLYCD, GBE1, ETFB, ETFA, ETFDH, FXN, SLC22A5, SLC25A20, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, DYSF, NF1, SCNN1G, SCNN1B, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, TMEM43, EMD, PLEC, TCAP, SGCD, ISPD, SMCHD1, LAMA2, LARGE1, HCN4, SCN5A, EEF1A2, VPS13A, LZTR1, LAMP2, SPRED1, RASA2, RRAS, ABCC6, ABCC9, PKP2, RYR2, CASQ2, ACTC1, TGFB3, PRDM16, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, GMPPB, VCL, TBX5, PPP1CB, DBH, APOA1, GATA6, XK, EPG5, CTNNA3, RBCK1, TBX20, ALPK3, CALR3, TAB2, TNNI3K, MYL4, GTPBP3, RMND1, FOXD4, HAND1, CDH2, MYBPHL, FBXO32, LRRC10, PPA2, PLEKHM2
Specificity
1 %
Genes
50 %
|
Emery-Dreifuss Muscular Dystrophy Panel.
By Blueprint Genetics in Finland.
DMD, LMNA, TTN, FHL1, TMEM43, EMD
Specificity
17 %
Genes
50 %
|
LGMD and Congenital Muscular Dystrophy Panel.
By Blueprint Genetics in Finland.
TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10 , (...)
View the complete list with 22 more genes
TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10, SYNE1, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, LARGE1, B3GALNT2, ITGA7, COL4A1, LIMS2, TNPO3, TOR1AIP1, SPEG, GMPPB, POGLUT1, COL4A2, VMA21
Specificity
3 %
Genes
50 %
|
Comprehensive Muscular Dystrophy / Myopathy Panel.
By Blueprint Genetics in Finland.
GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)
View the complete list with 53 more genes
GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BAG3, FHL1, SELENON, KLHL40, TPM3, ACTA1, MEGF10, KBTBD13, CFL2, TPM2, TNNT1, MTM1, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, COL4A1, VPS13A, MME, COL12A1, KLHL41, LIMS2, TNPO3, TOR1AIP1, SPEG, LMOD3, GMPPB, MICU1, POGLUT1, RBCK1, COL4A2, VMA21, TMEM126B
Specificity
2 %
Genes
50 %
|
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.
By Blueprint Genetics in Finland.
DSP, RAF1, DMD, LMNA, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, EMD, TCAP, HCN4, SCN5A, LAMP2, ABCC9, PKP2, RYR2, MYH6, PLN , (...)
View the complete list with 12 more genes
DSP, RAF1, DMD, LMNA, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, EMD, TCAP, HCN4, SCN5A, LAMP2, ABCC9, PKP2, RYR2, MYH6, PLN, DSG2, JUP, TPM1, TNNT2, JPH2, RBM20, DSC2, DTNA, VCL, CTNNA3, FBXO32, PLEKHM2
Specificity
4 %
Genes
50 %
|
Arrhythmia Panel.
By Blueprint Genetics in Finland.
DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)
View the complete list with 35 more genes
DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B, CACNB2, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, CASQ2, AKAP9, KCNA5, TGFB3, NKX2-5, TNNI3, MYH6, PLN, DSG2, JUP, TNNT2, DSC2, NOS1AP, SALL4, TBX5, DBH, GATA6, NUP155, SCN10A, CTNNA3, CALM3, TNNI3K, MYL4, TECRL, CDH2, PPA2
Specificity
2 %
Genes
50 %
|
Comprehensive Cardiology Panel.
By Blueprint Genetics in Finland.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)
View the complete list with 165 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1, AGK, TMEM70, PNPLA2, TSFM, DNAJC19, GFM1, PCCB, PCCA, SCO2, TAZ, COX15, GUSB, MLYCD, GBE1, ETFB, ETFA, ETFDH, FXN, SLC22A5, SLC25A20, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, NF1, SCNN1G, SCNN1B, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, TMEM43, EMD, PLEC, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNJ2, LAMA2, LARGE1, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, EEF1A2, VPS13A, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, ACTA2, ABCC6, TRPM4, ABCC9, SCN3B, CACNB2, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, CASQ2, AKAP9, KCNA5, ACTC1, TGFB3, PRDM16, NKX2-5, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, GMPPB, VCL, NOS1AP, SALL4, TBX5, PPP1CB, DBH, APOA1, GATA6, XK, EPG5, NUP155, ENPP1, SCN10A, CTNNA3, RBCK1, GATA5, TBX20, ALPK3, CALR3, CALM3, TAB2, TNNI3K, MYL4, GTPBP3, RMND1, TECRL, FOXD4, HAND1, CDH2, MYBPHL, FBXO32, LRRC10, PPA2, PLEKHM2
Specificity
1 %
Genes
50 %
|
Dilated Cardiomyopathy (DCM) Panel.
By Blueprint Genetics in Finland.
TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)
View the complete list with 50 more genes
TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, ACTA1, EMD, TCAP, HCN4, SCN5A, EEF1A2, VPS13A, LAMP2, ABCC6, ABCC9, PKP2, ACTC1, PRDM16, TNNC1, TNNI3, MYH6, PLN, DSG2, JUP, TPM1, TNNT2, JPH2, RBM20, ACTN2, DSC2, TOR1AIP1, SPEG, VCL, TBX5, APOA1, GATA6, EPG5, RBCK1, TBX20, ALPK3, TAB2, TNNI3K, MYL4, RMND1, FOXD4, HAND1, MYBPHL, GATAD2A, FBXO32, LRRC10, PLEKHM2
Specificity
2 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.
By Blueprint Genetics in Finland.
DSP, LMNA, TTN, DES, MYH7, FLNC, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, CDH2
Specificity
6 %
Genes
50 %
|
Cardiomyopathy, dilated type 1G.
By Bioarray in Spain.
TTN
Specificity
100 %
Genes
50 %
|
Autosomal recessive limb-girdle muscular dystrophy type 2J.
By Bioarray in Spain.
TTN
Specificity
100 %
Genes
50 %
|
CardioGene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)
View the complete list with 60 more genes
TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, KCNJ8, ABCC9, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, GATAD1, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, FHL2, TMPO
Specificity
2 %
Genes
50 %
|
Cardiomyopathy Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)
View the complete list with 39 more genes
TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, CASQ2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, GATAD1, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, CTF1, FHL2, TMPO
Specificity
2 %
Genes
50 %
|
Dilated Cardiomyopathy Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6 , (...)
View the complete list with 12 more genes
TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, TPM1, TNNT2, GATAD1, RBM20, ACTN2, CSRP3, VCL, CTF1, FHL2, TMPO
Specificity
4 %
Genes
50 %
|
iGene Cardiac Panel.
By ApolloGen, Inc. in United States.
COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)
View the complete list with 2 more genes
COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3, PCSK9, APOB
Specificity
5 %
Genes
50 %
|
Cardiomyopathy Exome Panel.
By Northwest Clinical Genomics Laboratory University of Washington in United States.
TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)
View the complete list with 55 more genes
TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, TRDN, CASQ2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, LAMA4, PRDM16, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, VCL, FHL2, TMPO, CHRM2, CAVIN4
Specificity
2 %
Genes
50 %
|
Cardiac Arrhythmia Exome Panel.
By Northwest Clinical Genomics Laboratory University of Washington in United States.
DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4 , (...)
View the complete list with 31 more genes
DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, SCN4B, KCNA5, NKX2-5, MYH6, PRKAG2, PLN, DSG2, TNNT2, RBM20, DSC2, DPP6, NPPA, GJA5, GNAI2
Specificity
2 %
Genes
50 %
|
Familial Dilated Cardiomyopathy Panel by NGS.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.
DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)
View the complete list with 15 more genes
DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
3 %
Genes
50 %
|
Left Ventricular Noncompaction Panel by NGS.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.
DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)
View the complete list with 15 more genes
DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
3 %
Genes
50 %
|
TTN Gene, entire coding region or targeted variant.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.
TTN
Specificity
100 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.
DSP, LMNA, TTN, DES, TMEM43, SCN5A, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
50 %
|
Cardiomyopathies.
By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.
TTR, TAZ, LMNA, TTN, MYH7, MYBPC3, TNNI3, MYH6, PLN, TNNT2, MYL2
Specificity
10 %
Genes
50 %
|
FAMILIAL DILATED CARDIOMYOPATHY.
By Laboratorio de Genetica Clinica SL in Spain.
EYA4, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2 , (...)
View the complete list with 5 more genes
EYA4, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL, TMPO
Specificity
4 %
Genes
50 %
|
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
PSEN1, EYA4, DSP, CRYAB, RAF1, MRPL3, TAZ, DMD, FKTN, LMNA, PSEN2, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TCAP, SGCD , (...)
View the complete list with 33 more genes
PSEN1, EYA4, DSP, CRYAB, RAF1, MRPL3, TAZ, DMD, FKTN, LMNA, PSEN2, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TCAP, SGCD, HCN4, SCN5A, LAMP2, ABCC9, ACTC1, MYLK2, LAMA4, PRDM16, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, MYPN, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, MYL2, MYL3, DTNA, VCL, TBX5, GATA6, TBX20, MIB1, CALR3
Specificity
2 %
Genes
50 %
|
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.
By Laboratorio de Genetica Clinica SL in Spain.
CAV3, TTN, MYH7, MYBPC3, TCAP, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3, VCL
Specificity
5 %
Genes
50 %
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, TNPO3, HNRNPDL, GMPPB
Specificity
4 %
Genes
50 %
|
Limb-girdle muscular dystrophy panel.
By LifeLabs Genetics in Canada.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
50 %
|
Limb-Girdle Muscular Dystrophy Type 2J, Sequencing Selected Exons TTN Gene.
By Reference Laboratory Genetics in Spain.
TTN
Specificity
100 %
Genes
50 %
|
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.
By Reference Laboratory Genetics in Spain.
TTR, AGL, GAA, SLC25A4, FXN, GLA, PTPN11, CAV3, TTN, DES, MYH7, FLNC, LDB3, MYBPC3, TCAP, LAMP2, ANK2, RYR2, ACTC1, MYLK2 , (...)
View the complete list with 17 more genes
TTR, AGL, GAA, SLC25A4, FXN, GLA, PTPN11, CAV3, TTN, DES, MYH7, FLNC, LDB3, MYBPC3, TCAP, LAMP2, ANK2, RYR2, ACTC1, MYLK2, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN, TPM1, TNNT2, JPH2, MYOZ2, ACTN2, CSRP3, MYL2, MYL3, VCL, CALR3
Specificity
3 %
Genes
50 %
|
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.
By Reference Laboratory Genetics in Spain.
TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, TNNC1, TNNI3 , (...)
View the complete list with 10 more genes
TTR, PSEN1, EYA4, TAZ, DMD, LMNA, PSEN2, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SGCD, SCN5A, LAMP2, ACTC1, TNNC1, TNNI3, MYH6, PLN, NEXN, DSG2, TPM1, TNNT2, RBM20, ACTN2, CSRP3, VCL
Specificity
4 %
Genes
50 %
|
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.
By Reference Laboratory Genetics in Spain.
DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes.
By Reference Laboratory Genetics in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
50 %
|
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes.
By Reference Laboratory Genetics in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
50 %
|
Dilated Cardiomyopathy , Massive Sequencing (NGS) TTN Gene.
By Reference Laboratory Genetics in Spain.
TTN
Specificity
100 %
Genes
50 %
|
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.
By Reference Laboratory Genetics in Spain.
ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)
View the complete list with 28 more genes
ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, DSC2, SCN10A, CTNNA3
Specificity
3 %
Genes
50 %
|
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.
By Reference Laboratory Genetics in Spain.
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)
View the complete list with 91 more genes
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TOR1A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, TPM3, ACTA1, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, CACNA1C, PEX14, PEX3, PEX26, PEX10, PEX12, PEX5, CHRNG, LAMP2, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, TNNT3, PEX11B, AMPD3
Specificity
1 %
Genes
50 %
|
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.
By Reference Laboratory Genetics in Spain.
TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)
View the complete list with 75 more genes
TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCND3, CACNA1H, KCNH2, SCN1B, HCN1, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, LAMP2, NOTCH1, TRPM4, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, TP63, KCNA5, ACTC1, MYLK2, TGFB3, LAMA4, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, DPP6, GJA1, SLC6A4, NUP155, NPPA, GJA5, CACNA1G, CTNNA3, ECE1
Specificity
2 %
Genes
50 %
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).
By Labor Dr. Wisplinghoff in Germany.
DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
10 %
Genes
50 %
|
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN , (...)
View the complete list with 28 more genes
TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
3 %
Genes
50 %
|
Phosphorus Pan Arrhythmia Panel.
By Phosphorus Diagnostics LLC in United States.
DSP, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L , (...)
View the complete list with 22 more genes
DSP, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, SNTA1, CASQ2, SCN4B, TGFB3, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2, SCN10A, CALM3
Specificity
3 %
Genes
50 %
|
Phosphorus Pan Cardiomyopathy Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)
View the complete list with 32 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, CACNA1C, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)
View the complete list with 40 more genes
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, CACNA1C, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)
View the complete list with 49 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, CACNA1C, RASA1, LAMP2, SPRED1, RRAS, A2ML1, ABCC9, PKP2, RYR2, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)
View the complete list with 50 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, LAMP2, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, SNTA1, CASQ2, SCN4B, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, SCN10A, CALM3
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)
View the complete list with 67 more genes
TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, RASA1, LAMP2, SPRED1, RRAS, A2ML1, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, SNTA1, CASQ2, SCN4B, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, SCN10A, CALM3
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)
View the complete list with 75 more genes
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, RASA1, LAMP2, SPRED1, RRAS, A2ML1, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, SNTA1, CASQ2, SCN4B, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, SCN10A, CALM3
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)
View the complete list with 57 more genes
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A, CACNA1C, RASA1, LAMP2, SPRED1, RRAS, A2ML1, ABCC9, PKP2, RYR2, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL
Specificity
2 %
Genes
50 %
|
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)
View the complete list with 58 more genes
TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, LAMP2, ABCC9, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, SNTA1, CASQ2, SCN4B, ACTC1, TGFB3, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, SCN10A, CALM3
Specificity
2 %
Genes
50 %
|
Phosphorus Arrhythmogenic Cardiomyopathy Panel.
By Phosphorus Diagnostics LLC in United States.
DSP, LMNA, TTN, DES, LDB3, TMEM43, EMD, SCN5A, PKP2, RYR2, TGFB3, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
5 %
Genes
50 %
|
Phosphorus Dilated Cardiomyopathy Panel.
By Phosphorus Diagnostics LLC in United States.
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3 , (...)
View the complete list with 22 more genes
TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PLN, DSG2, JUP, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, VCL
Specificity
3 %
Genes
50 %
|
Hereditary Myopathy with Early Respiratory Failure: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
TTN
Specificity
100 %
Genes
50 %
|
Salih Myopathy: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
TTN
Specificity
100 %
Genes
50 %
|
Tibial Muscular Dystrophy, Tardive; Tmd