Myopathy, Centronuclear, 2; Cnm2

Description

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, Centronuclear, 2; Cnm2

  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Motor delay
  • Ptosis
  • Abnormal facial shape
  • Muscle weakness
  • Cognitive impairment
  • Myopathy
And another 53 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Myopathy, Centronuclear, 2; Cnm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...)

View the complete list with 124 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2 , (...)

View the complete list with 91 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HACD1, LMOD3, SPEG, STAC3, MYF6, KLHL41, COL12A1, CHKB, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Congenital Myopathy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HACD1, LMOD3, SPEG, STAC3, MYF6, KLHL41, COL12A1, CHKB, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Centronuclear Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SPEG, MYF6, BIN1, MTM1, CCDC78, RYR1, DNM2
Specificity
43 %
Genes
75 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

HNRNPA1, HNRNPA2B1, MSTN, VMA21, CHCHD10, HACD1, MICU1, ORAI1, STIM1, CASQ1, LMOD3, SPEG, STAC3, MTMR14, MYF6, KLHL41, COL12A1, DNA2, ACVR1, FKBP14 , (...)

View the complete list with 53 more genes
Specificity
6 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
75 %
Skeletal myopathy Panel.

By Health in Code in Spain.

CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
50 %
SPEG.

By Fulgent Genetics Fulgent Genetics in United States.

SPEG
Specificity
100 %
Genes
25 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
2 %
Genes
50 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

VMA21, COL4A2, POGLUT1, GMPPB, SPEG, TOR1AIP1, TNPO3, LIMS2, COL4A1, ITGA7, B3GALNT2, LARGE1, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
50 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
50 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)

View the complete list with 165 more genes
Specificity
2 %
Genes
50 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...)

View the complete list with 50 more genes
Specificity
3 %
Genes
50 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
25 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, MYBPC3, RYR1, SELENON, MYH7, TTN, DNM2, NEB , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
75 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 59 more genes
Specificity
4 %
Genes
75 %
Congenital Muscular Myopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MYF6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, ACTA1, TPM3, RYR1, SELENON, MYH7, DNM2, NEB
Specificity
14 %
Genes
50 %
BIN1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

BIN1
Specificity
100 %
Genes
25 %
BIN1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

BIN1
Specificity
100 %
Genes
25 %
BIN1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

BIN1
Specificity
100 %
Genes
25 %
Centronuclear myopathy, AR (sequence analysis of BIN1 gene).

By CGC Genetics in Portugal.

BIN1
Specificity
100 %
Genes
25 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

MAMLD1, MTMR14, MYF6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, RYR1, SELENON, FHL1, MYH7, DNM2, NEB
Specificity
12 %
Genes
50 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

MAMLD1, MTMR14, MYF6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, RYR1, SELENON, FHL1, MYH7, DNM2, NEB
Specificity
12 %
Genes
50 %
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene.

By PreventionGenetics PreventionGenetics in United States.

BIN1
Specificity
100 %
Genes
25 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, MICU1, LMOD3, STAC3, KLHL41, COL12A1, COL6A1, COL6A3, COL6A2, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1 , (...)

View the complete list with 10 more genes
Specificity
10 %
Genes
75 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3 , (...)

View the complete list with 104 more genes
Specificity
3 %
Genes
75 %
BIN1.

By MGZ Medical Genetics Center in Germany.

BIN1
Specificity
100 %
Genes
25 %
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy.

By MGZ Medical Genetics Center in Germany.

MTMR14, BIN1, MTM1, TNNT1, TPM2, CFL2, KBTBD13, CCDC78, ACTA1, TPM3, KLHL40, RYR1, SELENON, DNM2, NEB
Specificity
14 %
Genes
50 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2 , (...)

View the complete list with 53 more genes
Specificity
5 %
Genes
75 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
75 %
Myopathy, centronuclear.

By Centogene AG - the Rare Disease Company in Germany.

BIN1
Specificity
100 %
Genes
25 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
75 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...)

View the complete list with 84 more genes
Specificity
3 %
Genes
75 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...)

View the complete list with 93 more genes
Specificity
3 %
Genes
75 %
Invitae Congenital Myopathy Panel.

By Invitae in United States.

LMOD3, STAC3, KLHL41, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
75 %
Invitae Centronuclear Myopathy Panel.

By Invitae in United States.

BIN1, MTM1, CCDC78, RYR1, TTN, DNM2
Specificity
50 %
Genes
75 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
75 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ , (...)

View the complete list with 58 more genes
Specificity
4 %
Genes
75 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 57 more genes
Specificity
4 %
Genes
75 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
25 %
BIN1.

By Fulgent Genetics Fulgent Genetics in United States.

BIN1
Specificity
100 %
Genes
25 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
Autosomal recessive centronuclear myopathy type 2.

By Bioarray in Spain.

BIN1
Specificity
100 %
Genes
25 %
Autosomal Recessive Centronuclear Myopathy , Sequencing BIN1 Gene.

By Reference Laboratory Genetics in Spain.

BIN1
Specificity
100 %
Genes
25 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...)

View the complete list with 91 more genes
Specificity
3 %
Genes
75 %
Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

MYF6, BIN1, MTM1, RYR1, DNM2
Specificity
40 %
Genes
50 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, DYSF, CAV3, DNM2, NEB, VCP, CRYAB, GNE
Specificity
6 %
Genes
25 %
Myofibrillar Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, DES, TTN, CRYAB
Specificity
12 %
Genes
25 %
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, CCDC78, FHL1, MYOT, ANO5, DES, TTN , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
25 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
25 %
Hypertrophic Cardiomyopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Dilated cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
Dilated cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
25 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
25 %
Dilated Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Hypertrophic Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

OBSCN, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, MYBPC3, MYH7, TTN, LMNA, DSP
Specificity
9 %
Genes
25 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
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.

DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
25 %
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.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
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.

VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
25 %
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
25 %
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.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Limb-Girdle Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
25 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
25 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
25 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
25 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
25 %
CardioNext with TTN.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
25 %
CMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
25 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
25 %
DCMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
25 %
TTN mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TTN
Specificity
100 %
Genes
25 %
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
25 %
Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes).

By CGC Genetics in Portugal.

VCL, MYL3, MYL2, CSRP3, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2, TCAP, MYBPC3, MYH7, TTN , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes).

By CGC Genetics in Portugal.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Hereditary proximal myopathy with early respiratory failure (sequence analysis of TTN gene).

By CGC Genetics in Portugal.

TTN
Specificity
100 %
Genes
25 %
Tibial muscular dystrophy (sequence analysis of exon 363 (Mex6) of TTN gene).

By CGC Genetics in Portugal.

TTN
Specificity
100 %
Genes
25 %
Limb-girdle muscular dystrophies (NGS panel for 26 genes).

By CGC Genetics in Portugal.

GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).

By CGC Genetics in Portugal.

TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).

By CGC Genetics in Portugal.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

GMPPB, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
Limb-girdle muscular dystrophy type 2J (LGMD2J, sequence analysis of TTN gene).

By CGC Genetics in Portugal.

TTN
Specificity
100 %
Genes
25 %
Cardiomyopathy, familial hypertrophic (sequence analysis of TTN gene).

By CGC Genetics in Portugal.

TTN
Specificity
100 %
Genes
25 %
Cardiomyopathy, familial hypertrophic (sequence analysis of TTN gene).

By CGC Genetics in Portugal.

TTN
Specificity
100 %
Genes
25 %
tibial muscular dystrophy.

By Laboratory of Genetics HUSLAB in Finland.

TTN
Specificity
100 %
Genes
25 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, KLHL9, TTN, DYSF, CAV3, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
25 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)

View the complete list with 144 more genes
Specificity
2 %
Genes
50 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, RYR2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
25 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
25 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
25 %
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
25 %
Tibial muscular dystrophy.

By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland.

TTN
Specificity
100 %
Genes
25 %
Salih myopathy.

By Neuromuscular Research Unit, Neurogenetics University of Tampere in Finland.

TTN
Specificity
100 %
Genes
25 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
25 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
25 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TCAP, DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, DNM2, SQSTM1, VCP, CRYAB, GNE
Specificity
5 %
Genes
25 %
Limb girdle muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Limb girdle muscular dystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Limb girdle muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

AGPAT2, MYL3, MYL2, CSRP3, TNNT2, TPM1, PLN, PRKAG2, TNNI3, ACTC1, LAMP2, LZTR1, ACTA1, MYBPC3, FHL1, BSCL2, MYH7, DES, TTN, NF1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
25 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

PLEC, FHL1, BAG3, LDB3, MYOT, FLNC, DES, TTN, LMNA, VCP, CRYAB, GNE
Specificity
9 %
Genes
25 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

AMPD1, LAMP2, RYR1, CACNA1S, ANO5, TTN, SCN4A, DYSF, FKRP, CLCN1, DNM2, DMD, SEPT9, ETFDH, ETFA, ETFB, PYGM, LPIN1, HADHB, HADHA , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
50 %
Muscular Dystrophy: Limb Girdle - autosomal recessive.

By MGZ Medical Genetics Center in Germany.

SGCD, TCAP, POMT1, POMT2, PLEC, ANO5, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32
Specificity
7 %
Genes
25 %
Newborn: Cardiomyopathy as presenting sign.

By MGZ Medical Genetics Center in Germany.

AARS, LAMP2, TTN, LMNA, SDHA, SLC25A20, SLC22A5, GBE1, CPT1A, COX15, LPIN1, TAZ, SCO2, GFM1, SLC25A3, TMEM70, AGK, MTO1, CPT2, GAA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
25 %
Muscle Disease with CNS Involvement.

By MGZ Medical Genetics Center in Germany.

MICU1, GMPPB, STAC3, POMK, LAMP2, SNAP25, B3GALNT2, LARGE1, RXYLT1, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, SIL1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Muscle Disease with Distal Myopathy.

By MGZ Medical Genetics Center in Germany.

MYH14, CHRNB1, CHRND, CHRNA1, AGRN, TCAP, BICD2, CCDC78, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
50 %
Hereditary Myopathy with Early Respiratory Failure.

By FirmaLab in United States.

TTN
Specificity
100 %
Genes
25 %
Distal Myopathy Panel.

By FirmaLab in United States.

MATR3, LDB3, MYOT, ANO5, MYH7, TTN, DYSF, CAV3, DNM2, NEB, GNE
Specificity
10 %
Genes
25 %
Dilated Cardiomyopathy Sequential Panel.

By FirmaLab in United States.

TNNT2, ACTC1, SCN5A, MYH7, TTN, LMNA
Specificity
17 %
Genes
25 %
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel.

By FirmaLab in United States.

TCAP, ANO5, TTN, SGCE, DYSF, FKRP, CAPN3, SGCG, SGCB, SGCA, TRIM32
Specificity
10 %
Genes
25 %
TTN.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTN
Specificity
100 %
Genes
25 %
Tibial muscular dystrophy, tardive.

By Centogene AG - the Rare Disease Company in Germany.

TTN
Specificity
100 %
Genes
25 %
Myopathy, early-onset with fatal cardiomyopathy.

By Centogene AG - the Rare Disease Company in Germany.

TTN
Specificity
100 %
Genes
25 %
Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J.

By Centogene AG - the Rare Disease Company in Germany.

TTN
Specificity
100 %
Genes
25 %
Cardiomyopathy, familial hypertrophic type 9.

By Centogene AG - the Rare Disease Company in Germany.

TTN
Specificity
100 %
Genes
25 %
Cardiomyopathy, dilated type 1G.

By Centogene AG - the Rare Disease Company in Germany.

TTN
Specificity
100 %
Genes
25 %
Limb-girdle muscular dystrophy panel.

By Centogene AG - the Rare Disease Company in Germany.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, ALG13, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Cardiomyopathy, hypertrophic Panel.

By CeGaT GmbH in Germany.

CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Limb-Girdle Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, POMK, HNRNPDL, TNPO3, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.

By CeGaT GmbH in Germany.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
25 %
Limb girdle muscular dystrophy 2J.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TTN
Specificity
100 %
Genes
25 %
TTN.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TTN
Specificity
100 %
Genes
25 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
25 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

MICU1, LMOD3, STAC3, MTMR14, MYF6, KLHL41, COL12A1, COL6A1, COL6A3, DNAJB6, MTM1, TNNT1, TPM2, CFL2, CNTN1, MEGF10, CCDC78, ACTA1, TPM3, KLHL40 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
50 %
Limb-Girdle Muscular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

GMPPB, POMK, HNRNPDL, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
25 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
25 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
25 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
25 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
25 %
Cardiomyopathies Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
25 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
25 %
Arrythmogenic Cardiomyopathy Panel.

By Health in Code in Spain.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
25 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
25 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
25 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
25 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
25 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
25 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
25 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
25 %
Invitae Arrhythmogenic Cardiomyopathy Panel.

By Invitae in United States.

DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, RYR2, PKP2, SCN5A, EMD, TMEM43, FLNC, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
25 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
25 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
25 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
25 %
Invitae Inclusion Body Myopathy Panel.

By Invitae in United States.

MYH2, TTN, VCP, GNE
Specificity
25 %
Genes
25 %
Invitae Distal Myopathy Panel.

By Invitae in United States.

DNAJB6, FHL1, BAG3, MATR3, LDB3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, SQSTM1, VCP, CRYAB, GNE
Specificity
6 %
Genes
25 %
Invitae Limb-Girdle Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Dilated cardiomyopathy: TTN gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TTN
Specificity
100 %
Genes
25 %
CARDIOMYOPATHY HYPERTROPHIC PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ACTC1, PDLIM3, RYR2, LAMP2, TCAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, TTN, DSP
Specificity
12 %
Genes
25 %
CARDIOMYOPATHY, DILATED (DCM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
LIMB-GIRDLE MUSCULAR DYSTROPHY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, ANO5, DES, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32
Specificity
6 %
Genes
25 %
Myofibrillar myopathy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DNAJB6, TPM3, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, LMNA, CRYAB, TRIM32
Specificity
8 %
Genes
25 %
TTN-Related Disorders: TTN Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTN
Specificity
100 %
Genes
25 %
TTN-Related Disorders: TTN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTN
Specificity
100 %
Genes
25 %
Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MYL3, MYL2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, PRKAG2, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, TTN, CAV3, GLA, TTR
Specificity
6 %
Genes
25 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
25 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, TNNI2, AMPD1, RYR2, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
50 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
25 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
25 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
25 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
25 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
25 %
Muscular Dystrophies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMEL1, SGCD, TCAP, POMT1, POMT2, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
25 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
50 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
25 %
Limb-Girdle Muscular Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ISPD, SGCD, TCAP, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, PNPLA2, TRIM32
Specificity
6 %
Genes
25 %
Distal Hereditary Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TCAP, FHL1, MATR3, LDB3, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, VCP, CRYAB, GNE
Specificity
8 %
Genes
25 %
Dilated Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
25 %
TTN.

By Fulgent Genetics Fulgent Genetics in United States.

TTN
Specificity
100 %
Genes
25 %
Emery-Dreifuss Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

EMD, TMEM43, FHL1, TTN, LMNA, DMD
Specificity
17 %
Genes
25 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
25 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.

By Blueprint Genetics in Finland.

CDH2, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, FLNC, MYH7, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
25 %
Cardiomyopathy, dilated type 1G.

By Bioarray in Spain.

TTN
Specificity
100 %
Genes
25 %
Autosomal recessive limb-girdle muscular dystrophy type 2J.

By Bioarray in Spain.

TTN
Specificity
100 %
Genes
25 %
CardioGene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
25 %
Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
Dilated Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
25 %
Cardiac Arrhythmia Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
25 %
Familial Dilated Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Left Ventricular Noncompaction Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
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
25 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, SCN5A, TMEM43, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
25 %
Cardiomyopathies.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.

MYL2, TNNT2, PLN, MYH6, TNNI3, MYBPC3, MYH7, TTN, LMNA, TAZ, TTR
Specificity
10 %
Genes
25 %
FAMILIAL DILATED CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
25 %
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, TCAP, MYBPC3, MYH7, TTN, CAV3
Specificity
5 %
Genes
25 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Limb-girdle muscular dystrophy panel.

By LifeLabs Genetics in Canada.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Limb-Girdle Muscular Dystrophy Type 2J, Sequencing Selected Exons TTN Gene.

By Reference Laboratory Genetics in Spain.

TTN
Specificity
100 %
Genes
25 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.

By Reference Laboratory Genetics in Spain.

CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
25 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, TTN, DSP
Specificity
12 %
Genes
25 %
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, ANO5, TTN, DYSF, FKRP, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN, TRIM32
Specificity
6 %
Genes
25 %
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Dilated Cardiomyopathy , Massive Sequencing (NGS) TTN Gene.

By Reference Laboratory Genetics in Spain.

TTN
Specificity
100 %
Genes
25 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
25 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
25 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).

By Labor Dr. Wisplinghoff in Germany.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP
Specificity
10 %
Genes
25 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
25 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
25 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
25 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, RYR2, PKP2, SCN5A, EMD, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
5 %
Genes
25 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
25 %
Hereditary Myopathy with Early Respiratory Failure: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TTN
Specificity
100 %
Genes
25 %
Salih Myopathy: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TTN
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
25 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
25 %
Congenital Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3
Specificity
5 %
Genes
25 %
RYR1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

RYR1
Specificity
100 %
Genes
25 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Congenital Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, KLHL40, RYR1, SELENON, MYH7, LMNA
Specificity
8 %
Genes
25 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, KLHL40, RYR1, SELENON, MYH7, LMNA
Specificity
8 %
Genes
25 %
Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7, LMNA
Specificity
15 %
Genes
25 %
Multiminicore Disease Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RYR1, SELENON
Specificity
50 %
Genes
25 %
Malignant hyperthermia susceptibility 1.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
25 %
Central core disease.

By Human Genetics Ruhr University in Germany.

RYR1
Specificity
100 %
Genes
25 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

GYG1, PHKG1, FBP2, RBCK1, PGK1, RYR1, CAV3, CPT1B, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, PHKA1, HADHB , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ACTA1, TPM3, RYR1, SELENON, MYH7
Specificity
20 %
Genes
25 %
RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
RYR1. Sequencing of the exons 2, 5, 9, 11, 12, 14, 17, 39, 40, 44, 45, 46, 71, 100, 101 and 102.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
RYR1. NextGeneDx.Sequencing by NGS of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1, SELENON
Specificity
50 %
Genes
25 %
RYR1. Sequencing of the exons 1-17, 39-48 and 90-104.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
RYR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RYR1
Specificity
100 %
Genes
25 %
Central core myopathy (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia susceptibility (sequence analysis of RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
25 %
Central core myopathy (deletion/duplication analysis on RYR1 gene).

By CGC Genetics in Portugal.

RYR1
Specificity
100 %
Genes
25 %
RYR1-Related Congenital Myopathies via the RYR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

STAC3, RYR1, CACNA1S
Specificity
34 %
Genes
25 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

FLAD1, GYG1, RBCK1, HADH, PGK1, FDX2, AMPD1, LAMP2, SIL1, RYR1, ANO5, DYSF, FKRP, FKTN, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
25 %
Malignant Hyperthermia panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

HADH, PGK1, FDX2, AMPD1, RYR1, ANO5, DYSF, FKRP, DMD, SLC22A5, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, LPIN1, ABHD5, HADHB, PNPLA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Malignant Hyperthermia- RYR1, CACNA1S.

By MGZ Medical Genetics Center in Germany.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
RYR1.

By MGZ Medical Genetics Center in Germany.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia.

By MGZ Medical Genetics Center in Germany.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, RYR1, SELENON, FHL1, LMNA, GAA
Specificity
10 %
Genes
25 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
25 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

PIEZO2, TOR1AIP1, COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, TNNT1, TPM2, CFL2, KBTBD13, ACTA1, TPM3, KLHL40, RYR1, SELENON, FHL1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Periodic Palsy.

By MGZ Medical Genetics Center in Germany.

KCNJ12, KCNE3, KCNJ2, RYR1, CACNA1S, SCN4A
Specificity
17 %
Genes
25 %
Muscle Disease with Ptosis / External Ophthalmoplegia.

By MGZ Medical Genetics Center in Germany.

ALG14, LRP4, PREPL, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, MTM1, RYR1, DNM2, RAPSN, DOK7, CHRNE, DPAGT1, KIF21A, CHAT, ALG2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Malignant Hyperthermia Susceptibility.

By MGZ Medical Genetics Center in Germany.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Minicore myopathy / Central core disease.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RYR1
Specificity
100 %
Genes
25 %
Minicore myopathy with external ophthalmoplegia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia panel.

By Centogene AG - the Rare Disease Company in Germany.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Central core disease of muscle.

By Centogene AG - the Rare Disease Company in Germany.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Panel.

By CeGaT GmbH in Germany.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Malignant Hyperthermia, RYR1.

By GGA - Galil Genetic Analysis in Israel.

RYR1
Specificity
100 %
Genes
25 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

GYG1, PGK1, AMPD1, PRKAG2, RYR1, CAV3, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, ISCU, PGAM2, LPIN1, ABHD5, PHKA1, TAZ , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
25 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
25 %
Familial hypercholesterolemia Extended Panel.

By Health in Code in Spain.

CH25H, PPARA, LPA, SLC22A8, CYP3A5, CYP3A4, SLCO1B1, APOB, LDLRAP1, PCSK9, NPC1L1, CYP2D6, ABCG8, ABCG5, AMPD1, ABCB1, RYR1, APOE, LIPA, LDLR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
RYR1-Related Multiminicore Disease.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
25 %
RYR1-Related Malignant Hyperthermia Susceptibility.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
25 %
RYR1-Related Congenital Fiber-Type Disproportion.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

RYR1
Specificity
100 %
Genes
25 %
Central core disease.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia susceptibility 1.

By Praxis fuer Humangenetik Wien in Austria.

RYR1
Specificity
100 %
Genes
25 %
Central core disease.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia susceptibility 1.

By MedGene in Slovakia.

RYR1
Specificity
100 %
Genes
25 %
Invitae Malignant Hyperthermia Susceptibility Panel.

By Invitae in United States.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Invitae Multiminicore Disease Panel.

By Invitae in United States.

RYR1, SELENON
Specificity
50 %
Genes
25 %
Invitae Central Core Disease Test.

By Invitae in United States.

RYR1
Specificity
100 %
Genes
25 %
Invitae Congenital Fiber-Type Disproportion Panel.

By Invitae in United States.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7, LMNA
Specificity
15 %
Genes
25 %
Central core congenital myopathy: RYR1 gene screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 2, 6-18).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 39-48).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant hyperthermia: RYR1 gene sequence analysis (exons 85-104).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
Central core disease: RYR1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
Hipertermia maligna: Secuenciación gen RYR1.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RYR1
Specificity
100 %
Genes
25 %
CONGENITAL MYOPATHY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7
Specificity
17 %
Genes
25 %
RYR1-Related Disorders: RYR1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
25 %
RYR1-Related Disorders: RYR1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RYR1
Specificity
100 %
Genes
25 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
25 %
Congenital Fiber Type Disproportion NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TPM2, ACTA1, TPM3, RYR1, SELENON
Specificity
20 %
Genes
25 %
RYR1.

By Fulgent Genetics Fulgent Genetics in United States.

RYR1
Specificity
100 %
Genes
25 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
25 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

TANGO2, FLAD1, GYG1, RBCK1, PGK1, MYH3, AMPD1, RYR1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, AHCY, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
25 %
Malignant hyperthermia.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
25 %
Central core disease.

By Bioarray in Spain.

RYR1
Specificity
100 %
Genes
25 %
MALIGNANT HYPERTHERMIASUSCEPTIBILITY TYPE 1 (KING SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
25 %
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7
Specificity
17 %
Genes
25 %
CENTRAL CORE MYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

RYR1
Specificity
100 %
Genes
25 %
MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE).

By Laboratorio de Genetica Clinica SL in Spain.

RYR1, SELENON
Specificity
50 %
Genes
25 %
Congenital Central Core Myopathy , Screening Mutations RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Type 1 , Sequencing Exons (85-104) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Type 1 , Sequencing Exons (39-48) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Malignant Hyperthermia Type 1 , Sequencing Exons (2, 6-18) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Congenital Central Core Myopathy , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7
Specificity
17 %
Genes
25 %
Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7
Specificity
17 %
Genes
25 %
Malignant Hyperthermia , Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes.

By Reference Laboratory Genetics in Spain.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %
Malignant Hyperthermia Type 1 , Massive Sequencing (NGS) RYR1 Gene.

By Reference Laboratory Genetics in Spain.

RYR1
Specificity
100 %
Genes
25 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes.

By Reference Laboratory Genetics in Spain.

TPM3, RYR1, SELENON, MYH7
Specificity
25 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
Multiminicore Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RYR1, SELENON
Specificity
50 %
Genes
25 %
Malignant Hyperthermia Susceptibility: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RYR1, CACNA1S
Specificity
50 %
Genes
25 %

Alternate names

Myopathy, Centronuclear, 2; Cnm2 Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive;ar-cnm.


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