Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-ige; Epkhe

Clinical Features

Top most frequent phenotypes and symptoms related to Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-ige; Epkhe

  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Recurrent respiratory infections
  • Recurrent infections
  • Respiratory tract infection
  • Ranula
  • Malabsorption
  • Pulmonic stenosis
  • Papule
And another 14 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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Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-ige; Epkhe Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSG1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

DSG1
Specificity
100 %
Genes
50 %
DSG1. Complete sequencing.

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

DSG1
Specificity
100 %
Genes
50 %
Epidermolysis bullosa panel.

By Centogene AG - the Rare Disease Company in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, DSG1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
100 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
Genes
50 %
DSG1.

By Fulgent Genetics Fulgent Genetics in United States.

DSG1
Specificity
100 %
Genes
50 %
Epidermolysis Bullosa Panel.

By Blueprint Genetics in Finland.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, DSG2, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CDSN, GRIP1 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Palmoplantar Keratoderma Panel.

By Blueprint Genetics in Finland.

DSP, GJB2, GJB6, MBTPS2, CTSC, JUP, PKP1, KRT14, ENPP1, KRT9, KRT16, KRT6A, KRT1, TRPV3, SLURP1, LOR, DSG1, AAGAB, KRT6C, KRT17 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Keratosis palmoplantaris striata I, AD.

By Bioarray in Spain.

DSG1
Specificity
100 %
Genes
50 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Comprehensive Cardiac Panel.

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

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia 8 - DSP Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

DSP
Specificity
100 %
Genes
50 %
Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

DSP
Specificity
100 %
Genes
50 %
ARVC panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

DSP, TMEM43, PKP2, DSG2, DSC2
Specificity
20 %
Genes
50 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

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

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis.

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

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Pan-cardiomyopathy panel.

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

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy Panel.

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

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

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

DSP, LMNA, TTN, MYH7, MYBPC3, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
9 %
Genes
50 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
50 %
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
DSP Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DSP
Specificity
100 %
Genes
50 %
DSP Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DSP
Specificity
100 %
Genes
50 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, JUP, TGM5, ITGA3, PKP1, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8, CDSN
Specificity
5 %
Genes
50 %
ARVC panel.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

DSP, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
17 %
Genes
50 %
Targeted CM panel.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

DSP, LMNA, MYH7, LDB3, MYBPC3, TMEM43, SCN5A, PKP2, TNNI3, NEXN, DSG2, JUP, TPM1, TNNT2, DSC2
Specificity
7 %
Genes
50 %
Cardiac Arrhythmia Gene Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

DSP, GLA, LMNA, MYH7, BAG3, MYBPC3, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, CACNB2, PKP2, RYR2, KCNE2, CASQ2, KCNA5, TNNI3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
DSP.

By Institute for Human Genetics University Clinic Freiburg in Germany.

DSP
Specificity
100 %
Genes
50 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Pan Cardiomyopathy Panel (62 Genes).

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

TTR, DSP, CRYAB, RAF1, TAZ, DOLK, DMD, GLA, PTPN11, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD, TCAP , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

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

TTR, GAA, EYA4, DSP, SLC25A4, SCO2, TAZ, COX15, FXN, DMD, GLA, FKTN, SGCA, SGCB, SGCG, LMNA, FKRP, CAV3, TTN, DES , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel.

By GeneDx in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel.

By GeneDx in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, MT-TL1, MT-TK, MT-ND1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Comprehensive Arrhythmia Panel.

By GeneDx in United States.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
ARVCNext.

By Ambry Genetics in United States.

DSP, LMNA, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
CardioNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
CMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TMEM43, EMD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
RhythmNext.

By Ambry Genetics in United States.

DSP, LMNA, CAV3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
RhythmFirst reflex RhythmNext.

By Ambry Genetics in United States.

DSP, LMNA, CAV3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
DSP mutation analysis.

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

DSP
Specificity
100 %
Genes
50 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

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

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
DSP. Complete sequencing.

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

DSP
Specificity
100 %
Genes
50 %
DSG2, DSP, PKP2. NextGeneDx.Complete sequencing by NGS.

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

DSP, PKP2, DSG2
Specificity
34 %
Genes
50 %
DSC2, DSG2, DSP, JUP, PKP2, RYR2 (30 exones), TGFB3. NextGeneDx.Complete sequencing by NGS.

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

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
DSP. Complete sequencing.

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

DSP
Specificity
100 %
Genes
50 %
PKP2, DSP, DSG2, DSC2, JUP, TGFB3, RYR2. (30 exones) NextGeneDx.Complete Sequencing by NGS.

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

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for 7 genes).

By CGC Genetics in Portugal.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia - recessive (ARVD, NGS panel for 2 genes).

By CGC Genetics in Portugal.

DSP, JUP
Specificity
50 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, NGS panel for 3 genes).

By CGC Genetics in Portugal.

DSP, PKP2, DSG2
Specificity
34 %
Genes
50 %
Lethal acantholytic epidermolysis bullosa (sequence analysis of DSP gene).

By CGC Genetics in Portugal.

DSP
Specificity
100 %
Genes
50 %
Carvajal syndrome (sequence analysis of DSP gene).

By CGC Genetics in Portugal.

DSP
Specificity
100 %
Genes
50 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics in Portugal.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia 8 (ARVD, sequence analysis of DSP gene).

By CGC Genetics in Portugal.

DSP
Specificity
100 %
Genes
50 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).

By CGC Genetics in Portugal.

DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).

By CGC Genetics in Portugal.

DSP, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, LAMP2, ABCC9, PKP2, RYR2, ACTC1, MYLK2, TNNC1, TNNI3 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes).

By CGC Genetics in Portugal.

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes).

By CGC Genetics in Portugal.

DSP, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
ARVD/C8.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

DSP
Specificity
100 %
Genes
50 %
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, PKP1, KRT14, ITGB4, ITGA6, FERMT1, DST, COL17A1, COL7A1
Specificity
7 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP -Related Disorders via the DSP Gene.

By PreventionGenetics PreventionGenetics in United States.

DSP
Specificity
100 %
Genes
50 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, FBN1, NRAS, FKTN, LMNA, CAV3, DES, MYH7, MYBPC3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, TGFBR2, FBN2, ABCC9 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
50 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSP, CAV3, DES, LDB3, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Epidermolysis bullosa Comprehensive panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Epidermolysis bullosa NGS panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Epidermolysis bullosa Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, JUP, KLHL24, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, CHST8 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Darier-White disease.

By Connective Tissue Gene Tests in United States.

DSP
Specificity
100 %
Genes
50 %
Erythrokeratodermias and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
50 %
Erythrokeratodermias and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
50 %
Darier-White disease Deletion / Duplication.

By Connective Tissue Gene Tests in United States.

DSP
Specificity
100 %
Genes
50 %
Darier-White disease Comprehensive.

By Connective Tissue Gene Tests in United States.

DSP
Specificity
100 %
Genes
50 %
Erythrokeratodermias and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DSP, GJB3, GJA1, KRT83, LOR, GJB4, KDSR
Specificity
15 %
Genes
50 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Malformations of Cortical Development.

By MGZ Medical Genetics Center in Germany.

DSP, FGFR3, DES, TMEM43, EFHC1, PKP2, RYR2, TRDN, TGFB3, DSG2, JUP, DSC2
Specificity
9 %
Genes
50 %
Infancy: Cardiomyopathies.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, ACADVL, CPT2, DSP, RAF1, MTO1, AGK, TMEM70, SLC25A3, SCO2, TAZ, COX15, CPT1A, SLC22A5, SLC25A20, SDHA, GLA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
ARVC Panel.

By FirmaLab in United States.

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
13 %
Genes
50 %
DSP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

DSP
Specificity
100 %
Genes
50 %
Cardiac conduction abnormalities panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

DSP, LMNA, CAV3, CACNA1A, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTR, EYA4, DSP, CRYAB, TAZ, DMD, GLA, FKTN, LMNA, CAV3, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Epidermolysis bullosa, lethal acantholytic.

By Centogene AG - the Rare Disease Company in Germany.

DSP
Specificity
100 %
Genes
50 %
Keratosis palmoplantaris striata II.

By Centogene AG - the Rare Disease Company in Germany.

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic right ventricular cardiomyopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Cardiomyopathy, dilated with woolly hair and keratoderma.

By Centogene AG - the Rare Disease Company in Germany.

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic right ventricular cardiomyopathy type 8.

By Centogene AG - the Rare Disease Company in Germany.

DSP
Specificity
100 %
Genes
50 %
Skin fragility-woolly hair syndrome.

By Centogene AG - the Rare Disease Company in Germany.

DSP
Specificity
100 %
Genes
50 %
Arrhythmia, familial panel.

By Centogene AG - the Rare Disease Company in Germany.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Genetic Epidermolyses and blistering disorders Panel.

By CeGaT GmbH in Germany.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
6 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.

By CeGaT GmbH in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8,DSP.

By GGA - Galil Genetic Analysis in Israel.

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic right-venticular cardiomyopathy, DSP.

By GGA - Galil Genetic Analysis in Israel.

DSP
Specificity
100 %
Genes
50 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, CAV3, DES, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

DSP, LMNA, TTN, DES, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
8 %
Genes
50 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
DSP gene sequencing.

By Health in Code in Spain.

DSP
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy with frequent ventricular arrhythmias Stage 2.

By Health in Code in Spain.

DSP, PKP2, DSG2, DSC2
Specificity
25 %
Genes
50 %
Dilated cardiomyopathy with alteration of the right ventricle.

By Health in Code in Spain.

DSP, PKP2, DSG2, DSC2
Specificity
25 %
Genes
50 %
Arrhytmogenic right ventricular dysplasia Stage 1.

By Health in Code in Spain.

DSP, PKP2, DSG2, DSC2
Specificity
25 %
Genes
50 %
Arrhytmogenic right ventricular dysplasia with suspected Carvajal syndrome.

By Health in Code in Spain.

DSP
Specificity
100 %
Genes
50 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.

By Health in Code in Spain.

ACADM, DSP, LMNA, CAV3, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Arrythmogenic Cardiomyopathy Panel.

By Health in Code in Spain.

DSP, LMNA, TTN, DES, FLNC, LDB3, TMEM43, SCN5A, PKP2, RYR2, CASQ2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3
Specificity
6 %
Genes
50 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

HFE, TTR, GAA, DSP, CAVIN1, GLA, LMNA, CAV3, DES, MYH7, FLNC, LDB3, SYNE1, TMEM43, SYNE2, EMD, KCNJ2, KCND3, KCNH2, SCN1B , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

EYA4, DSP, CRYAB, DNAJC19, TAZ, ALMS1, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, ANO5, BAG3, MYBPC3, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

DSP
Specificity
100 %
Genes
50 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, ABCC9, CACNB2, GPD1L, PKP2, ANK2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Invitae Arrhythmogenic Cardiomyopathy Panel.

By Invitae in United States.

DSP, LMNA, TTN, DES, FLNC, TMEM43, EMD, SCN5A, PKP2, RYR2, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
6 %
Genes
50 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, TMEM43 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Invitae Left Ventricular Noncompaction Panel.

By Invitae in United States.

DSP, TAZ, LMNA, MYH7, MYBPC3, HCN4, SCN5A, LAMP2, RYR2, ACTC1, TNNI3, PLN, TPM1, TNNT2, VCL
Specificity
7 %
Genes
50 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
50 %
CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC).

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

DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Arrhythmias: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2, CTNNA3
Specificity
13 %
Genes
50 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
50 %
Arrhythmias: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, KCNJ5 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSP, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
15 %
Genes
50 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA, CAV3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, DSP, CRYAB, RAF1, TAZ, SLC22A5, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, RIT1, MAP2K2, FKTN, LMNA , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, DSP, CRYAB, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TTR, EYA4, DSP, DNAJC19, TAZ, ALMS1, GLA, FKTN, LMNA, CAV3, DES, MYH7, LDB3, MYBPC3, TMEM43, EMD, TCAP, SGCD, SCN5A, LAMP2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Familial Arrhythmia Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

DSP, CAV3, TMEM43, KCNJ2, KCNH2, SCN1B, SCN5A, KCNE1, KCNQ1, CACNA1C, CACNB2, GPD1L, PKP2, ANK2, RYR2, KCNE2, SNTA1, CASQ2, AKAP9, SCN4B , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CPT1A, SLC25A20, LMNA, CAV3, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
50 %
Epidermolysis Bullosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, CD151, ITGA3, KRT14, ITGB4, COL17A1, COL7A1, MMP1
Specificity
8 %
Genes
50 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
Dilated Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CRYAB, TAZ, LMNA, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, EMD, TCAP, SGCD, LAMP2, ABCC9, PKP2, ACTC1, LAMA4, ANKRD1, TNNC1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, DSP, CRYAB, RAF1, TAZ, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2, FKTN, LMNA, CAV3, TTN, DES , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
50 %
DSP.

By Fulgent Genetics Fulgent Genetics in United States.

DSP
Specificity
100 %
Genes
50 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics in Finland.

BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
50 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

DSP, RAF1, DMD, LMNA, TTN, DES, MYH7, FLNC, BAG3, MYBPC3, EMD, TCAP, HCN4, SCN5A, LAMP2, ABCC9, PKP2, RYR2, MYH6, PLN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

DSP, HADHA, LMNA, CAV3, TTN, DES, LDB3, BAG3, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, CACNA1C, TRPM4, ABCC9, SCN3B , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.

By Blueprint Genetics in Finland.

DSP, LMNA, TTN, DES, MYH7, FLNC, LDB3, TMEM43, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2, CTNNA3, CDH2
Specificity
6 %
Genes
50 %
Keratosis palmoplantaris striata II.

By Bioarray in Spain.

DSP
Specificity
100 %
Genes
50 %
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome.

By Bioarray in Spain.

DSP
Specificity
100 %
Genes
50 %
CardioGene Set.

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

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy Gene Set.

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

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

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

DSP, DES, TMEM43, PKP2, RYR2, DSG2, JUP, DSC2
Specificity
13 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2, CTNNA3
Specificity
12 %
Genes
50 %
DSP Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

DSP
Specificity
100 %
Genes
50 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Cardiomyopathy Exome Panel.

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

TTR, GAA, PSEN1, DSP, CRYAB, RAF1, TAZ, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
Cardiac Arrhythmia Exome Panel.

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

DSP, GLA, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, TRPM4 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Familial Dilated Cardiomyopathy Panel by NGS.

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

DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Left Ventricular Noncompaction Panel by NGS.

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

DSP, RAF1, TAZ, DMD, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, PKP2, ACTC1, ANKRD1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
DSP Gene, entire coding region or targeted variant.

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

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.

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

DSP, LMNA, TTN, DES, TMEM43, SCN5A, PKP2, RYR2, TGFB3, PLN, DSG2, JUP, DSC2
Specificity
8 %
Genes
50 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

DSP, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
13 %
Genes
50 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PSEN1, EYA4, DSP, CRYAB, RAF1, MRPL3, TAZ, DMD, FKTN, LMNA, PSEN2, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3, TCAP, SGCD , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

DSP, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2, CTNNA3
Specificity
10 %
Genes
50 %
LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA.

By Laboratorio de Genetica Clinica SL in Spain.

DSP
Specificity
100 %
Genes
50 %
EPIDERMOLISIS BULLOSA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, TGM5, ITGA3, PKP1, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1
Specificity
5 %
Genes
50 %
Carvajal Syndrome , Sequencing DSP Gene.

By Reference Laboratory Genetics in Spain.

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic Right Ventricle Dysplasia Type 8 , Sequencing DSP Gene.

By Reference Laboratory Genetics in Spain.

DSP
Specificity
100 %
Genes
50 %
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

DSP, TTN, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
12 %
Genes
50 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

ACADM, DSP, LMNA, CAV3, TTN, DES, FLNC, TMEM43, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNE1, KCNQ1, CACNA1C, LAMP2, TRPM4 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

TTR, RET, EYA4, PITX2, DSP, CRYAB, DNM1L, SLC25A3, TSFM, DNAJC19, PHOX2A, TAZ, DMD, DMPK, PTPN11, PHOX2B, FKTN, LMNA, CAV3, TTN , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).

By Labor Dr. Wisplinghoff in Germany.

DSP, LMNA, TTN, DES, TMEM43, PKP2, RYR2, TGFB3, DSG2, JUP, DSC2
Specificity
10 %
Genes
50 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, ACADVL, EYA4, CPT2, DSP, CRYAB, RAF1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, CAV3, TTN, DES, LDB3, TMEM43, EMD, KCNJ2, KCNH2, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, ABCC9, KCNE3, CACNB2, GPD1L , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

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

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, LMNA, TTN, DES, LDB3, TMEM43, EMD, SCN5A, PKP2, RYR2, TGFB3, TNNI3, PRKAG2, PLN, DSG2, JUP, TNNT2, RBM20, ACTN2, DSC2
Specificity
5 %
Genes
50 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Phosphorus Left Ventricular Noncompaction Panel.

By Phosphorus Diagnostics LLC in United States.

DSP, TAZ, LMNA, MYH7, LDB3, MYBPC3, HCN4, SCN5A, LAMP2, RYR2, ACTC1, TNNI3, PLN, TPM1, TNNT2, ACTN2, VCL
Specificity
6 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %

Alternate names

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-ige; Epkhe Is also known as severe dermatitis, multiple allergies, and metabolic wasting syndrome, sam syndrome;congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; sam syndrome.



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