ABCC9 gene related symptoms and diseases

All the information presented here about the ABCC9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCC9 gene

Symptoms // Phenotype % Cases
Syncope Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Palpitations Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Gingival overgrowth Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCC9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Stroke
  • Atrial fibrillation
  • Arrhythmia
  • Rarely - Less than 30% cases

  • ST segment elevation
  • Tachycardia
  • Sudden cardiac death
  • Chest pain
  • Seizures

And 151 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCC9 gene

Here you will find a list of rare diseases related to the ABCC9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACROMEGALOID FACIAL APPEARANCE SYNDROME


Alternate names

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome, thick lips and oral mucosa

Description

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

Most common symptoms of ACROMEGALOID FACIAL APPEARANCE SYNDROME

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

SOURCES: ORPHANET

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Alternate names

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Description

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

Most common symptoms of HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

SOURCES: ORPHANET MESH OMIM

BRUGADA SYNDROME


Alternate names

BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds

Description

Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.

Most common symptoms of BRUGADA SYNDROME

  • Seizures
  • Pain
  • Arrhythmia
  • Vertigo
  • Tachycardia


More info about BRUGADA SYNDROME

SOURCES: ORPHANET OMIM

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

CARDIOMYOPATHY, DILATED, 1O; CMD1O


Alternate names

CARDIOMYOPATHY, DILATED, 1O; CMD1O Is also known as cardiomyopathy, dilated, with ventricular tachycardia

Most common symptoms of CARDIOMYOPATHY, DILATED, 1O; CMD1O

  • Congestive heart failure
  • Dilated cardiomyopathy
  • Ventricular tachycardia
  • Impaired myocardial contractility


More info about CARDIOMYOPATHY, DILATED, 1O; CMD1O

SOURCES: MESH OMIM

FAMILIAL ATRIAL FIBRILLATION


Alternate names

FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant

Description

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

  • Pain
  • Respiratory distress
  • Arrhythmia
  • Stroke
  • Dilated cardiomyopathy


More info about FAMILIAL ATRIAL FIBRILLATION

SOURCES: OMIM MESH ORPHANET

ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12


Description

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (OMIM ).

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12

  • Stroke
  • Syncope
  • Atrial fibrillation
  • Paroxysmal atrial fibrillation
  • Thromboembolic stroke


More info about ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12

SOURCES: OMIM

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME


Alternate names

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff, hypertrichosis-coarse face syndrome, hypertrichosis-acromegaloid facial features syndrome

Description

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

Most common symptoms of HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

SOURCES: ORPHANET


Potential gene panels for ABCC9 gene

Brugada Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 SLMAP HCN4 TRPM4 SCN3B GPD1L

More info about this panel

Comprehensive Cardiac Panel Panel

United States.

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 panel

Dilated cardiomyopathy - full panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Dilated cardiomyopathy - full panel that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

More info about this panel

Dilated cardiomyopathy - familial variant analysis Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Dilated cardiomyopathy - familial variant analysis that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

More info about this panel

Pan-cardiomyopathy panel Panel

Canada.

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 panel

Cardiomyopathy Panel Panel

United States.

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 panel

Dilated Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Dilated Cardiomyopathy Panel (30 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dilated Cardiomyopathy Panel (30 genes) that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Comprehensive Cardiomyopathy Panel (37 genes) that also includes the following genes: SCN5A SCO2 SGCD SURF1 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

DCM and DMD related Cardiomyopathy Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center DCM and DMD related Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Atrial Fibrillation Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrial Fibrillation Panel that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE2

More info about this panel

Cardiac Channelopathy Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cardiac Channelopathy Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNA2D1 CACNB2

More info about this panel

ABCC9 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ABCC9 gene.

More info about this panel

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel

United States.

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 panel

Pan Cardiomyopathy Panel (62 Genes) Panel

United States.

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 panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Comprehensive Cardiomyopathy Panel Panel

United States.

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 panel

CardioNext with TTN Panel

United States.

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 panel

CMNext with TTN Panel

United States.

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 panel

CustomNext: Cardio Panel

United States.

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 panel

DCMNext with TTN Panel

United States.

By Ambry Genetics DCMNext with TTN that also includes the following genes: SCN5A TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1

More info about this panel

ABCC9. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ABCC9 gene.

More info about this panel

Dilated cardiomyopathy (CMD, NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Dilated cardiomyopathy (CMD, NGS panel for 22 genes) that also includes the following genes: SGCD TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1 LDB3

More info about this panel

Cardiomyopathy, dilated 1O (sequence analysis of ABCC9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC9 gene.

More info about this panel

Cantu syndrome (sequence analysis of ABCC9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ABCC9 gene.

More info about this panel

Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) Panel

Portugal.

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 panel

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) Panel

Portugal.

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 panel

Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE5

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

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 panel

Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Sudden Cardiac Arrest Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN2B SCN4B SCN5A SNTA1 TGFBR2 TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dilated Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Cantu Syndrome via ABCC9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ABCC9 gene.

More info about this panel

Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Brugada syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Brugada syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders NGS panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Cardiac channelopathy Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Deletion/ Duplication panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Brugada syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Brugada syndrome and related disorders Comprehensive panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP

More info about this panel

Cardiac channelopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy Comprehensive panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Cardiac channelopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Cardiac channelopathy NGS panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C

More info about this panel

Cantu syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cantu syndrome Comprehensive panel that also includes the following genes: ABCC9 KCNJ8

More info about this panel

Cantu syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cantu syndrome Deletion/ Duplication panel that also includes the following genes: ABCC9 KCNJ8

More info about this panel

Cantu syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cantu syndrome NGS panel that also includes the following genes: ABCC9 KCNJ8

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Heart Diseases - panels Panel

Germany.

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 panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

ABCC9 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ABCC9 gene.

More info about this panel

Cardiomyopathy panel Panel

Netherlands.

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 panel

Cantu syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCC9 gene.

More info about this panel

Cardiomyopathy, dilated type 1O Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ABCC9 gene.

More info about this panel

Atrial Fibrillation and Short QT Syndrome Panel Panel

Germany.

By CeGaT GmbH Atrial Fibrillation and Short QT Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN4B SCN5A CACNA1C CACNA2D1 CACNB2 SCN3B GJA5 ABCC9

More info about this panel

Cardio-channelopathy-gene-panel Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1

More info about this panel

Arrhythmia Panel

Estonia.

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 panel

Dilated Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dilated Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Auricular Fibrillation Panel Panel

Spain.

By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1

More info about this panel

J Wave Syndrome Panel Panel

Spain.

By Health in Code J Wave Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

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 panel

Brugada Syndrome Panel Panel

Spain.

By Health in Code Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

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 panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

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 panel

Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel

Spain.

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 panel

Cardiomyopathies Panel Panel

Spain.

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 panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

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 panel

Cardiovascular Diseases_General Panel Panel

Spain.

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 panel

Atrial fibrillation Panel Panel

Spain.

By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1

More info about this panel

Brugada syndrome / J wave syndrome Panel

Spain.

By Health in Code Brugada syndrome / J wave syndrome that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN ACTA1 ACTC1 CAV3 ANKRD1

More info about this panel

Arrhythmia General Panel Panel

Spain.

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 panel

Cardiomyopathies General Panel Panel

Spain.

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 panel

Invitae Arrhythmia Comprehensive Panel Panel

United States.

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 panel

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

United States.

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 panel

Invitae Cardiomyopathy Comprehensive Panel Panel

United States.

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 panel

Invitae Dilated Cardiomyopathy Panel Panel

United States.

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 panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

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 panel

Invitae Brugada Syndrome Panel Panel

United States.

By Invitae Invitae Brugada Syndrome Panel that also includes the following genes: SCN5A CACNA1C CACNB2 HCN4 GPD1L ABCC9 KCNH2 PKP2

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Dilated Cardiomyopathy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Comprehensive Cardiovascular: Sequencing Panel Panel

United States.

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

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Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

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 panel

Cardiomyopathy: Sequencing Panel Panel

United States.

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 panel

Comprehensive Cardiovascular: Deletion/Duplication Panel Panel

United States.

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 panel

Dilated Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

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Familial Cardiomyopathy Full Gene Sequencing Panel Panel

United States.

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 panel

Pan-Cardio NGS Panel Panel

United States.

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

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Atrial Fibrillation NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Atrial Fibrillation NGS Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A HCN4 SCN3B GATA4 GATA6 GJA5

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Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Dilated Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dilated Cardiomyopathy NGS Panel that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

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Hypertrophic Cardiomyopathy NGS Panel Panel

United States.

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

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ABCC9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCC9 gene.

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Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

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Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel Panel

Finland.

By Blueprint Genetics Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel that also includes the following genes: RYR2 SCN5A TCAP TNNT2 TPM1 TTN VCL JPH2 FBXO32 HCN4

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Arrhythmia Panel Panel

Finland.

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 panel

Comprehensive Cardiology Panel Panel

Finland.

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 panel

Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

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Hypertrophic Cardiomyopathy (HCM) Panel Panel

Finland.

By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2

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Focus::MCL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C

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CANTU SYNDROME Panel

Spain.

By Bioarray

This panel specifically test the ABCC9 gene.

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Cardiomyopathy, dilated type 1O Panel

Spain.

By Bioarray

This panel specifically test the ABCC9 gene.

More info about this panel

CardioGene Set Panel

United States.

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

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Cardiomyopathy Gene Set Panel

United States.

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

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Dilated Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Dilated Cardiomyopathy Gene Set that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Dilated Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1

More info about this panel

Cardiomyopathy Exome Panel Panel

United States.

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 panel

Cardiac Arrhythmia Exome Panel Panel

United States.

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 panel

Familial Dilated Cardiomyopathy Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Familial Dilated Cardiomyopathy Panel by NGS that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

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Left Ventricular Noncompaction Panel by NGS Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Left Ventricular Noncompaction Panel by NGS that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

ABCC9 Gene, entire coding region or targeted variant Panel

Canada.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute

This panel specifically test the ABCC9 gene.

More info about this panel

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

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FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

More info about this panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

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Hypertrichotic Osteochondrodysplasia , Sequencing ABCC9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ABCC9 gene.

More info about this panel

Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SCN1B SCN2B SCN4B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCNE2 KCNJ2

More info about this panel

Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes Panel

Spain.

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

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Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

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

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Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia Panel Panel

United States.

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 panel

Phosphorus Pan Cardiomyopathy Panel Panel

United States.

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 panel

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

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 panel

Phosphorus Brugada Syndrome Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Brugada Syndrome Panel that also includes the following genes: SCN10A SCN5A CACNA1C CACNB2 HCN4 GPD1L ABCC9 KCNE3 KCNH2 PKP2

More info about this panel

Phosphorus Dilated Cardiomyopathy Panel Panel

United States.

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 panel


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