TMEM43 gene related symptoms and diseases
All the information presented here about the TMEM43 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TMEM43 gene
Symptoms // Phenotype | % Cases |
---|---|
Cardiomyopathy | Uncommon - Between 30% and 50% cases |
Dilated cardiomyopathy | Uncommon - Between 30% and 50% cases |
Muscular dystrophy | Uncommon - Between 30% and 50% cases |
Sudden cardiac death | Uncommon - Between 30% and 50% cases |
Proximal muscle weakness | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TMEM43 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Syncope
- Atrial fibrillation
- Palpitations
- Arrhythmia
- Progressive muscle weakness
- Proximal amyotrophy
- Congestive heart failure
- Bradycardia
And 96 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TMEM43 gene
Here you will find a list of rare diseases related to the TMEM43. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY
Alternate names
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy, emd2, muscular dystrophy, limb-girdle, type 1b, formerly, emery-dreifuss muscular dystrophy, autosomal dominant, edmd2, cardiomyopathy, dilated, with quadriceps myopathy, muscular dystrophy, proximal, type 1b, forme
Description
EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.
Most common symptoms of AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY
- Intellectual disability
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
Description
Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.
Most common symptoms of EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
- Muscle weakness
- Flexion contracture
- Cardiomyopathy
- Arrhythmia
- Proximal muscle weakness
More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
SOURCES: OMIM
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Alternate names
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 Is also known as arrhythmogenic right ventricular cardiomyopathy 5, arvc5
Most common symptoms of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
- Cardiomyopathy
- Congestive heart failure
- Dilated cardiomyopathy
- Dyskinesia
- Chest pain
More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM
Alternate names
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM
SOURCES: ORPHANET
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM
Alternate names
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM
SOURCES: ORPHANET
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM
Alternate names
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, familial isolated arrhythmogenic ventricular dysplasia, classic form, familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM
SOURCES: ORPHANET
Search interest in TMEM43
Potential gene panels for TMEM43 gene
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation Panel
By Athena Diagnostics Inc Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA
More info about this panelMuscular Dystrophy Advanced Evaluation Panel
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panelComprehensive Cardiac Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelNeuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelDilated & Arrhythmogenic Cardiomyopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelTest for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TMEM43 gene.
More info about this panelARVC panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht ARVC panel that also includes the following genes: TMEM43 DSC2 DSG2 DSP PKP2
More info about this panelArrhythmogenic right ventricular cardiomyopathy - full panel Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Arrhythmogenic right ventricular cardiomyopathy - full panel that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelArrhythmogenic right ventricular cardiomyopathy - familial variant analysis Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelPan-cardiomyopathy panel Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Pan-cardiomyopathy panel that also includes the following genes: RYR2 SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panelCardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Arrhythmogenic Right Ventricular Cardiomyopathy that also includes the following genes: RYR2 TGFB3 TTN TMEM43 DSC2 DSG2 DSP JUP LMNA MYBPC3
More info about this panelArrhymogenic Right Ventricular Cardiomyopathy Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Arrhymogenic Right Ventricular Cardiomyopathy Panel that also includes the following genes: RYR2 TGFB3 TTN LDB3 DES TMEM43 DSC2 DSG2 DSP JUP
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panelCongenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panelCongenital Myopathy with Prominent Contractures Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panelEmery-Dreifuss Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Emery-Dreifuss Muscular Dystrophy Sequencing Panel that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA
More info about this panelTargeted CM panel Panel
By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS Targeted CM panel that also includes the following genes: SCN5A TNNI3 TNNT2 TPM1 LDB3 TMEM43 NEXN DSC2 DSG2 DSP
More info about this panelTMEM43 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TMEM43 gene.
More info about this panelDCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelPan Cardiomyopathy Panel (62 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelCardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel Panel
By GeneDx Arrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel Panel
By GeneDx Arrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelComprehensive Cardiomyopathy Panel Panel
By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panelComprehensive Arrhythmia Panel Panel
By GeneDx Comprehensive Arrhythmia Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CACNB2 CASQ2 CAV3 HCN4
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the TMEM43 gene.
More info about this panelARVCNext Panel
By Ambry Genetics ARVCNext that also includes the following genes: RYR2 TGFB3 TMEM43 DSC2 DSG2 DSP JUP LMNA PKP2
More info about this panelCardioNext with TTN Panel
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panelCMNext with TTN Panel
By Ambry Genetics CMNext with TTN that also includes the following genes: RYR2 SCN5A TAZ TBX20 TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2
More info about this panelCustomNext: Cardio Panel
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panelRhythmNext Panel
By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panelRhythmFirst reflex RhythmNext Panel
By Ambry Genetics RhythmFirst reflex RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panelTMEM43 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the TMEM43 gene.
More info about this panelCardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panelArrhythmogenic right ventricular dysplasia (ARVD, NGS panel for 7 genes) Panel
By CGC Genetics Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for 7 genes) that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelEmery-Dreifuss muscular dystrophy type 7, AD (sequence analysis of TMEM43 gene) Panel
By CGC Genetics
This panel specifically test the TMEM43 gene.
More info about this panelCardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) Panel
By CGC Genetics Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SNTA1 TCAP TNNC1 TNNI3 TNNT2
More info about this panelCardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) Panel
By CGC Genetics Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) that also includes the following genes: RYR2 SGCD TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2
More info about this panelCongenital muscular dystrophies (NGS panel for 31 genes) Panel
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelARVD/C5 Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the TMEM43 gene.
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 TGFB3 DES TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panelPan Cardiomyopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via TMEM43 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TMEM43 gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panelComprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN
More info about this panelMuscular Dystrophy: Emery-Dreifuss Panel
By MGZ Medical Genetics Center Muscular Dystrophy: Emery-Dreifuss that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA
More info about this panelHeart Diseases - panels Panel
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panelEmery-Dreifuss Muscular Dystrophy Panel
By MGZ Medical Genetics Center Emery-Dreifuss Muscular Dystrophy that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA
More info about this panelMalformations of Cortical Development Panel
By MGZ Medical Genetics Center Malformations of Cortical Development that also includes the following genes: RYR2 TGFB3 TRDN EFHC1 DES TMEM43 DSC2 DSG2 DSP FGFR3
More info about this panelMuscle Disease with Contractures and/or Rigid Spine Panel
By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
More info about this panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panelARVC Panel Panel
By FirmaLab ARVC Panel that also includes the following genes: RYR2 TGFB3 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelTMEM43 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TMEM43 gene.
More info about this panelCardiac conduction abnormalities panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiac conduction abnormalities panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1A CACNA2D1 CACNB2 CASQ2
More info about this panelCardiomyopathy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panelArrhythmogenic right ventricular cardiomyopathy panel Panel
By Centogene AG - the Rare Disease Company Arrhythmogenic right ventricular cardiomyopathy panel that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelArrhythmogenic right ventricular cardiomyopathy type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TMEM43 gene.
More info about this panelArrhythmia, familial panel Panel
By Centogene AG - the Rare Disease Company Arrhythmia, familial panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2 CAV3
More info about this panelMuscular Dystrophies Panel Panel
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel Panel
By CeGaT GmbH Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel that also includes the following genes: RYR2 TGFB3 TTN CTNNA3 DES TMEM43 DSC2 DSG2 DSP JUP
More info about this panelSingle gene testing TMEM43 Panel
By CeGaT GmbH
This panel specifically test the TMEM43 gene.
More info about this panelArrhythmogenic right ventricular dysplasia 5 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the TMEM43 gene.
More info about this panelArrhythmia Panel
By Asper Biogene Asper Biogene LLC Arrhythmia that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2
More info about this panelArrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Panel
By Asper Biogene Asper Biogene LLC Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy that also includes the following genes: RYR2 TGFB3 TTN LDB3 CTNNA3 DES TMEM43 DSC2 DSG2 DSP
More info about this panelTMEM43 gene sequencing Panel
By Health in Code
This panel specifically test the TMEM43 gene.
More info about this panelArrhytmogenic right ventricular dysplasia Stage 2 Panel
By Health in Code Arrhytmogenic right ventricular dysplasia Stage 2 that also includes the following genes: TMEM43 JUP
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelDilated Cardiomyopathy Panel Panel
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panelSkeletal Myopathy Panel Panel
By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelVentricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelArrythmogenic Cardiomyopathy Panel Panel
By Health in Code Arrythmogenic Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A TGFB3 TTN CASQ2 LDB3 CTNNA3 DES TMEM43 DSC2
More info about this panelArrhythmogenic cardiomyopathy Panel
By Health in Code Arrhythmogenic cardiomyopathy that also includes the following genes: RYR2 SCN5A TGFB3 TTN CASQ2 LDB3 PERP PPP1R13L CTNNA3 CTNNB1
More info about this panelVentricular arrhythmia and sudden death without structural heart disease Panel
By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelSkeletal myopathy Panel Panel
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the TMEM43 gene.
More info about this panelInvitae Arrhythmia Comprehensive Panel Panel
By Invitae Invitae Arrhythmia Comprehensive Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TRDN TTN CACNA1C CACNB2 CALM1 CALM2
More info about this panelInvitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel
By Invitae Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2
More info about this panelInvitae Arrhythmogenic Cardiomyopathy Panel Panel
By Invitae Invitae Arrhythmogenic Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TTN ACTN2 RBM20 DES TMEM43 DSC2
More info about this panelInvitae Cardiomyopathy Comprehensive Panel Panel
By Invitae Invitae Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelInvitae Dilated Cardiomyopathy Panel Panel
By Invitae Invitae Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panelCARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC) that also includes the following genes: RYR2 TGFB3 TTN TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelArrhythmias: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel that also includes the following genes: RYR2 CTNNA3 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelComprehensive Cardiovascular: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panelArrhythmias: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Deletion/Duplication Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CACNB2 CASQ2 HCN4 RANGRF
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RYR2 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelCardiomyopathy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TNNC1 TNNI3
More info about this panelCardiomyopathy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1
More info about this panelComprehensive Cardiovascular: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panelFamilial Cardiomyopathy Full Gene Sequencing Panel Panel
By Integrated Genetics Westborough Integrated Genetics Familial Cardiomyopathy Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2
More info about this panelFamilial Arrhythmia Full Gene Sequencing Panel Panel
By Integrated Genetics Westborough Integrated Genetics Familial Arrhythmia Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2 CAV3
More info about this panelMuscular Dystrophies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6
More info about this panelArrhythmia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Arrhythmia NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNA2D1 CACNB2 SLC25A20
More info about this panelPan-Cardio NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panelSudden Death Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3
More info about this panelHypertrophic Cardiomyopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panelTMEM43 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TMEM43 gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelEmery-Dreifuss Muscular Dystrophy Panel Panel
By Blueprint Genetics Emery-Dreifuss Muscular Dystrophy Panel that also includes the following genes: TTN TMEM43 DMD EMD FHL1 LMNA
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelArrhythmia Panel Panel
By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel Panel
By Blueprint Genetics Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel that also includes the following genes: RYR2 TGFB3 TTN LDB3 CDH2 CTNNA3 DES TMEM43 DSC2 DSG2
More info about this panelCardioGene Set Panel
By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ
More info about this panelCardiomyopathy Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Panel
By Genomics and Pathology Services Washington University in St. Louis Arrhythmogenic Right Ventricular Cardiomyopathy that also includes the following genes: RYR2 DES TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Arrhythmogenic Right Ventricular Cardiomyopathy Panel that also includes the following genes: RYR2 TGFB3 CTNNA3 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelTMEM43 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TMEM43 gene.
More info about this panelCardiomyopathy Exome Panel Panel
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panelCardiac Arrhythmia Exome Panel Panel
By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C
More info about this panelTMEM43 Gene, entire coding region or targeted variant Panel
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the TMEM43 gene.
More info about this panelArrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS Panel
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS that also includes the following genes: RYR2 SCN5A TGFB3 TTN DES TMEM43 DSC2 DSG2 DSP JUP
More info about this panelFAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA Panel
By Laboratorio de Genetica Clinica SL FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA that also includes the following genes: RYR2 TGFB3 TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelFAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL that also includes the following genes: RYR2 TGFB3 CTNNA3 DES TMEM43 DSC2 DSG2 DSP JUP LMNA
More info about this panelArrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: RYR2 TGFB3 TTN TMEM43 DSC2 DSG2 DSP JUP PKP2
More info about this panelVentricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel
By Reference Laboratory Genetics Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNC1 TNNI3
More info about this panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panelCardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
More info about this panelEmery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA
More info about this panelArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel) Panel
By Labor Dr. Wisplinghoff Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel) that also includes the following genes: RYR2 TGFB3 TTN DES TMEM43 DSC2 DSG2 DSP JUP LMNA
More info about this panelPhosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2
More info about this panelPhosphorus Pan Arrhythmia Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SNTA1 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelPhosphorus Pan Cardiomyopathy Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2
More info about this panelPhosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panelPhosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panelPhosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP
More info about this panelPhosphorus Arrhythmogenic Cardiomyopathy Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Arrhythmogenic Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A TGFB3 TNNI3 TNNT2 TTN LDB3 ACTN2 RBM20 DES
More info about this panelPhosphorus Dilated Cardiomyopathy Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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