Hypoplastic Left Heart Syndrome 2; Hlhs2

Description

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953).For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypoplastic Left Heart Syndrome 2; Hlhs2

  • Ventricular septal defect
  • Hypoplastic left heart
  • Mitral atresia
  • Aortic valve atresia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypoplastic Left Heart Syndrome 2; Hlhs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
Ciliopathies.

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

VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Heterotaxia.

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

NODAL, FOXH1, DNAH11, DNAH5, DNAI1, NKX2-5, SMAD2, ZIC3, GDF1, GATA4, CITED2, SHROOM3, LEFTY2, CRELD1, ACVR2B
Specificity
7 %
Genes
100 %
Atrioventricular Block Panel.

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

LMNA, DES, EMD, SCN1B, SCN5A, TRPM4, NKX2-5
Specificity
15 %
Genes
100 %
Congenital Heart Disease Panel.

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

TBX1, NKX2-5, TBX5
Specificity
34 %
Genes
100 %
NKX2.5 Sequencing.

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

NKX2-5
Specificity
100 %
Genes
100 %
Heterotaxy V2 Panel.

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

NODAL, FOXH1, DNAH11, DNAH5, NKX2-5, GJA1, ZIC3, GDF1, SHROOM3, LEFTY2, CRELD1, ACVR2B, GATA6, CFC1, NAT10, CFAP53, BCL9L
Specificity
6 %
Genes
100 %
NKX2.5 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

NKX2-5
Specificity
100 %
Genes
100 %
NKX2.5 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

NKX2-5
Specificity
100 %
Genes
100 %
NKX2-5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NKX2-5
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
DCMNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, RAF1, TAZ, DMD, FKTN, LMNA, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, TCAP, SCN5A, LAMP2, ABCC9, ACTC1, LAMA4, NKX2-5 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
NKX2-5 mutation analysis.

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

NKX2-5
Specificity
100 %
Genes
100 %
NKX2-5. Complete sequencing.

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

NKX2-5
Specificity
100 %
Genes
100 %
Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene).

By CGC Genetics in Portugal.

NKX2-5
Specificity
100 %
Genes
100 %
Isolated Nonsyndromic Congenital Heart Disease/Defects.

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

NKX2-5
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INVS, CCDC39, NODAL, FOXH1, TTC25, GAS8, CCDC151, SPAG1, CFAP298, DNAAF4, ARMC4, ZMYND10, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene.

By PreventionGenetics PreventionGenetics in United States.

NKX2-5
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
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
100 %
Atrioventricular block Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

LMNA, DES, EMD, SCN1B, SCN5A, TRPM4, NKX2-5
Specificity
15 %
Genes
100 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
100 %
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
100 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ELN, JAG1, RAF1, TAZ, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MYH7, LDB3, MYBPC3, NODAL, FOXH1, MYH11 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Heterotaxy panel.

By Centogene AG - the Rare Disease Company in Germany.

NODAL, FOXH1, NKX2-5, GJA1, ZIC3, GDF1, LEFTY2, CRELD1, ACVR2B, CFC1
Specificity
10 %
Genes
100 %
Atrial septal defect with atrioventricular conduction defects.

By Centogene AG - the Rare Disease Company in Germany.

NKX2-5
Specificity
100 %
Genes
100 %
Congenital heart defects panel.

By Centogene AG - the Rare Disease Company in Germany.

TBX1, FOXH1, NOTCH1, NKX2-5, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, ZFPM2, TBX20
Specificity
9 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Single gene testing NKX2-5.

By CeGaT GmbH in Germany.

NKX2-5
Specificity
100 %
Genes
100 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
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
100 %
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
100 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2, KCNE2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
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
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
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
100 %
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
100 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, EMD, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4, KCNE2, SCN4B, ACTC1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
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
100 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

HFE, TTR, GAA, GLA, LMNA, DES, MYH7, LDB3, SYNE1, SYNE2, EMD, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA1D, KCNQ1, LAMP2, TRPM4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Atrial fibrillation Panel.

By Health in Code in Spain.

TTR, PITX2, ZFHX3, LMNA, EMD, KCNJ2, KCND3, KCNH2, SCN1B, HCN4, SCN5A, KCNE1, KCNQ1, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, RYR2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
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
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
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
100 %
Isolated Nonsyndromic Congenital Heart Disease/Defects.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

NKX2-5, GATA4, TBX20
Specificity
34 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM.

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

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NKX2-5
Specificity
100 %
Genes
100 %
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NKX2-5
Specificity
100 %
Genes
100 %
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
100 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Familial Congenital Heart Disease Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

CHD7, NKX2-5, TBX5, GATA4
Specificity
25 %
Genes
100 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
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
100 %
Heterotaxy and Situs Inversus NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

INVS, CCDC39, NODAL, FOXH1, DNAAF3, DNAL1, CCDC40, DNAAF1, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, ZIC3, GDF1, LEFTY2, ACVR2B, CFC1
Specificity
5 %
Genes
100 %
NKX2-5.

By Fulgent Genetics Fulgent Genetics in United States.

NKX2-5
Specificity
100 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
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
100 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
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
100 %
Atrial septal defect - atrioventricular conduction defects.

By Bioarray in Spain.

NKX2-5
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel.

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

TSHR, NKX2-5, PAX8, TSHB, THRA
Specificity
20 %
Genes
100 %
Familial Atrial Septal Defect NGS and Deletion/Duplication Panel.

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

MYH7, ACTC1, NKX2-5, MYH6, GATA4, TBX20
Specificity
17 %
Genes
100 %
NKX2-5 Gene Sequencing and Deletion/Duplication Analysis.

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

NKX2-5
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
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
100 %
CONGENITAL HEART DEFECTS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ELN, TBX1, NOTCH1, ACTC1, NKX2-5, MYH6, ZIC3, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, ZFPM2, TBX20, TAB2, MED13L
Specificity
6 %
Genes
100 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC26A4, IYD, TSHR, NKX2-1, NKX2-5, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG
Specificity
8 %
Genes
100 %
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

TSHR, NKX2-1, NKX2-5, PAX8, FOXE1
Specificity
20 %
Genes
100 %
Congenital Heart Disease, Sequencing NKX2-5 Gene.

By Reference Laboratory Genetics in Spain.

NKX2-5
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism, Sequencing NKX2-5 Gene.

By Reference Laboratory Genetics in Spain.

NKX2-5
Specificity
100 %
Genes
100 %
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

TBX1, NKX2-5, GDF1, GATA6, NKX2-6
Specificity
20 %
Genes
100 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
100 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GAA, GLA, LMNA, DES, EMD, KCNJ2, SCN1B, HCN4, SCN5A, CACNA1D, LAMP2, TRPM4, ACTC1, NKX2-5, PRKAG2, TBX5, GJA5, SCN10A, TNNI3K
Specificity
5 %
Genes
100 %
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
100 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FRANK-TER HAAR SYNDROME; FTHS LAMB-SHAFFER SYNDROME; LAMSHF

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