Tetralogy Of Fallot; Tof

Description

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Clinical Features

Top most frequent phenotypes and symptoms related to Tetralogy Of Fallot; Tof

  • Growth delay
  • Cryptorchidism
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of cardiovascular system morphology
  • Clinodactyly of the 5th finger
  • Clinodactyly
  • Abnormal heart morphology
  • Proptosis
  • Broad forehead
And another 14 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Tetralogy Of Fallot; Tof have a estimated birth prevalence of 34 per 100k in Europe.


Mendelian

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Tetralogy Of Fallot; Tof Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
5 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
5 %
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.

TBX5, NKX2-5, TBX1
Specificity
67 %
Genes
10 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

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

FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP, IL2RG, ADA
Specificity
5 %
Genes
5 %
TBX1 Sequencing.

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

TBX1
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

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

FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
TBX1 Deletion/duplication analysis.

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

TBX1
Specificity
100 %
Genes
5 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TBCE, FAM111A, GCM2, PTH, STX16, PDE4D, GNA11, GNAS, GATA3, TBX1, CASR, PRKAR1A, CHD7, AIRE, HADHB, CYP24A1, HADHA
Specificity
6 %
Genes
5 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

CDH7, TBCE, FAM111A, GCM2, PTH, STX16, PDE4D, GNA11, GNAS, GATA3, TBX1, CASR, PRKAR1A, AIRE, HADHB, CYP24A1, HADHA
Specificity
6 %
Genes
5 %
TBX1 Gene Sequencing.

By GeneDx in United States.

TBX1
Specificity
100 %
Genes
5 %
CardioNext with TTN.

By Ambry Genetics in United States.

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

View the complete list with 65 more genes
Specificity
6 %
Genes
24 %
CustomNext: Cardio.

By Ambry Genetics in United States.

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

View the complete list with 86 more genes
Specificity
6 %
Genes
29 %
TBX1. Complete sequencing.

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

TBX1
Specificity
100 %
Genes
5 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
Severe combined immunodeficency Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
Severe combined immunodeficiency Del/dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PRKDC, FOXN1, LIG4, NHEJ1, RAG1, RAG2, IL7R, JAK3, DOCK8, TBX1, WAS, DCLRE1C, ATM, IKBKG, CHD7, PNP, IL2RG, ADA
Specificity
6 %
Genes
5 %
DiGeorge syndrome (sequence analysis of TBX1 gene).

By CGC Genetics in Portugal.

TBX1
Specificity
100 %
Genes
5 %
DiGeorge syndrome (deletion/duplication analysis of TBX1 gene).

By CGC Genetics in Portugal.

TBX1
Specificity
100 %
Genes
5 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN
Specificity
54 %
Genes
39 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN
Specificity
54 %
Genes
39 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests in United States.

NKX2-6, NR2F2, TAB2, TBX20, NOTCH2, GATA6, GATA4, GDF1, TBX5, NKX2-5, NOTCH1, TBX1, CHD7, JAG1, ELN
Specificity
54 %
Genes
39 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 137 more genes
Specificity
9 %
Genes
62 %
TBX1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TBX1
Specificity
100 %
Genes
5 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CD8A, CORO1A, CD3G, IL2RA, PRKDC, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, STIM1, JAK3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
B-positive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, RMRP, PNP, IL2RG
Specificity
7 %
Genes
5 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, RMRP, PNP , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
DiGeorge syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TBX1
Specificity
100 %
Genes
5 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 1185 more genes
Specificity
1 %
Genes
10 %
Congenital heart defects panel.

By Centogene AG - the Rare Disease Company in Germany.

TBX20, ZFPM2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, NKX2-5, NOTCH1, FOXH1, TBX1
Specificity
75 %
Genes
43 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

IRX4, TLL1, NKX2-6, NR2F2, NAA15, MED13L, TAB2, SMAD6, TBX3, TFAP2B, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, CFAP53, CFC1, GATA6, ACVR2B, CRELD1 , (...)

View the complete list with 24 more genes
Specificity
32 %
Genes
67 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAPBP, TAP2, TRAC, TNFRSF4, RHOH, IKBKB, LCK, CD247, CD8A, CORO1A, CD3G, MBL2, MALT1, IL21R, ACP5, CARD11, PRKDC, CR2, TTC7A, STK4 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
5 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

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

View the complete list with 193 more genes
Specificity
4 %
Genes
39 %
Cardiomyopathies Panel.

By Health in Code in Spain.

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

View the complete list with 129 more genes
Specificity
6 %
Genes
39 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

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

View the complete list with 19 more genes
Specificity
18 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

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

View the complete list with 360 more genes
Specificity
5 %
Genes
77 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)

View the complete list with 56 more genes
Specificity
20 %
Genes
72 %
Di-George syndrome (VCF).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

TBX1
Specificity
100 %
Genes
5 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

MEIS2, NKX2-6, NR2F2, MED13L, ANKS6, ZNF423, NOTCH2, CFAP53, ACVR2B, LEFTY2, GATA4, GDF1, NEK8, ZIC3, GJA1, TBX5, NKX2-5, ACTC1, DNAI1, DNAH5 , (...)

View the complete list with 62 more genes
Specificity
10 %
Genes
39 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

HAND1, MEIS2, NKX2-6, NR2F2, MED13L, SMAD6, ZFPM2, GATA6, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, NOTCH1 , (...)

View the complete list with 22 more genes
Specificity
24 %
Genes
48 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
5 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

DCLRE1B, SP110, ZBTB24, SPINK5, DNMT3B, PGM3, ACD, TTC7A, SMARCAL1, EPG5, WIPF1, NFKBIA, FOXN1, ORAI1, STAT5B, POLE, STIM1, NOP10, NHP2, CTC1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Velocardiofacial syndrome: (22q11) TBX1 gene deletions analysis (MLPA).

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

TBX1
Specificity
100 %
Genes
5 %
Di George syndrome: 22q11 deletion analysis.

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

TBX1
Specificity
100 %
Genes
5 %
Di George syndrome: TBX1 gene sequence analysis.

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

TBX1
Specificity
100 %
Genes
5 %
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, ZAP70, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, PNP, IL2RG
Specificity
8 %
Genes
5 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CD247, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, RAC2, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, STIM1, JAK3, TBX1, DCLRE1C, PNP, IL2RG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 81 more genes
Specificity
6 %
Genes
29 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
5 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 372 more genes
Specificity
1 %
Genes
5 %
TBX1.

By Fulgent Genetics Fulgent Genetics in United States.

TBX1
Specificity
100 %
Genes
5 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
5 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
5 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
5 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

CDK13, HAND1, TLL1, PRKD1, MEIS2, NKX2-6, NR2F2, NAA15, CHD4, TGDS, ADAMTS17, TAB2, TFAP2B, TBX20, ADAMTS10, EIF2AK4, GATA5, ZFPM2, NOTCH2, GJA5 , (...)

View the complete list with 42 more genes
Specificity
18 %
Genes
53 %
DiGeorge syndrome.

By Bioarray in Spain.

TBX1
Specificity
100 %
Genes
5 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
15 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
2 %
Genes
15 %
CONGENITAL HEART DEFECTS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MED13L, TAB2, TBX20, ZFPM2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, ZIC3, MYH6, NKX2-5, ACTC1, NOTCH1, TBX1, ELN
Specificity
48 %
Genes
39 %
DIGEORGE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TBX1
Specificity
100 %
Genes
5 %
Velocardiofacial Syndrome , Deletions TBX1 Gene.

By Reference Laboratory Genetics in Spain.

TBX1
Specificity
100 %
Genes
5 %
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

NKX2-6, GATA6, GDF1, NKX2-5, TBX1
Specificity
100 %
Genes
24 %
Proximal 22Q Gene deletion/duplication.

By Molecular Diagnostics Children's Hospital of Wisconsin in United States.

CRKL, TBX1
Specificity
50 %
Genes
5 %
Ciliopathies.

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

EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GATA4, GDF1, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1 , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
15 %
Heterotaxia.

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

ACVR2B, CRELD1, LEFTY2, SHROOM3, CITED2, GATA4, GDF1, ZIC3, SMAD2, NKX2-5, DNAI1, DNAH5, DNAH11, FOXH1, NODAL
Specificity
34 %
Genes
24 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
10 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, ZBTB20, TRMT10A, DNAJC3, MNX1, NKX2-2, DUT, IL2RA, APPL1, LRBA, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
10 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)

View the complete list with 52 more genes
Specificity
3 %
Genes
10 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
10 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago in United States.

HYMAI, PLAGL1, ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
15 %
Genes
10 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZFP57, MNX1, NKX2-2, EIF2AK3, GATA6, GATA4, FOXP3, PDX1, INS, KCNJ11, ABCC8, GCK
Specificity
17 %
Genes
10 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
10 %
GATA4 mutation analysis.

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

GATA4
Specificity
100 %
Genes
5 %
Atrial septal defect type 2 (sequence analysis of GATA4 gene).

By CGC Genetics in Portugal.

GATA4
Specificity
100 %
Genes
5 %
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene.

By PreventionGenetics PreventionGenetics in United States.

GATA4
Specificity
100 %
Genes
5 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
5 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
10 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
2 %
Genes
10 %
Congenital heart defects panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

GJC1, TBX20, CFC1, ACVR2B, CRELD1, LEFTY2, GATA4, GDF1, ZIC3, GJA1, TBX5, MYH6, NKX2-5, ACTC1, MYH11, FOXH1, NODAL, MYBPC3, LDB3, MYH7 , (...)

View the complete list with 14 more genes
Specificity
15 %
Genes
24 %
Atrial septal defect type 2.

By Centogene AG - the Rare Disease Company in Germany.

GATA4
Specificity
100 %
Genes
5 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...)

View the complete list with 18 more genes
Specificity
14 %
Genes
24 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

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

View the complete list with 61 more genes
Specificity
5 %
Genes
20 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

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

View the complete list with 121 more genes
Specificity
4 %
Genes
24 %
Atrial fibrillation Panel.

By Health in Code in Spain.

GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...)

View the complete list with 23 more genes
Specificity
17 %
Genes
34 %
Arrhythmia General Panel.

By Health in Code in Spain.

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

View the complete list with 198 more genes
Specificity
4 %
Genes
39 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

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

View the complete list with 153 more genes
Specificity
4 %
Genes
29 %
Isolated Nonsyndromic Congenital Heart Disease/Defects.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

TBX20, GATA4, NKX2-5
Specificity
67 %
Genes
10 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
3 %
Genes
15 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
10 %
Familial Congenital Heart Disease Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

GATA4, TBX5, NKX2-5, CHD7
Specificity
50 %
Genes
10 %
Atrial Fibrillation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
15 %
GATA4.

By Fulgent Genetics Fulgent Genetics in United States.

GATA4
Specificity
100 %
Genes
5 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
10 %
Atrioventricular septal defect 4.

By Bioarray in Spain.

GATA4
Specificity
100 %
Genes
5 %
Atrial septal defect 2.

By Bioarray in Spain.

GATA4
Specificity
100 %
Genes
5 %
Solid Tumor Gene Set.

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

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
3 %
Genes
15 %
Head & Neck Tumors Gene Set.

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

RHOA, BCL2L1, PIK3C2B, MCL1, KMT2C, NFE2L2, RAC1, FAT1, AFF3, ERBB2, CCND1, NOTCH2, PIK3R1, AKT1, AKT3, FBXW7, EGFR, AKT2, PIK3CA, GATA4 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
10 %
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.

TBX20, GATA4, MYH6, NKX2-5, ACTC1, MYH7
Specificity
34 %
Genes
10 %
GATA4 Gene Sequencing and Deletion/Duplication Analysis.

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

GATA4
Specificity
100 %
Genes
5 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
2 %
Genes
20 %
CONGENITAL HEART DEFECTS.

By Laboratorio de Genetica Clinica SL in Spain.

MED13L, CFC1, CITED2, GATA4, GDF1
Specificity
60 %
Genes
15 %
Atrioventricular Septal Defect Type 4 , Sequencing GATA4 Gene.

By Reference Laboratory Genetics in Spain.

GATA4
Specificity
100 %
Genes
5 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
24 %
Syndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GATA4, SOX9, POR, ATRX, DHCR7, ARX, WT1
Specificity
15 %
Genes
5 %
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZFPM2
Specificity
100 %
Genes
5 %
Tetralogy of Fallot.

By Centogene AG - the Rare Disease Company in Germany.

ZFPM2
Specificity
100 %
Genes
5 %
Diaphragmatic hernia type 3.

By Centogene AG - the Rare Disease Company in Germany.

ZFPM2
Specificity
100 %
Genes
5 %
Single gene testing ZFPM2.

By CeGaT GmbH in Germany.

ZFPM2
Specificity
100 %
Genes
5 %
ZFPM2.

By Fulgent Genetics Fulgent Genetics in United States.

ZFPM2
Specificity
100 %
Genes
5 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
10 %
JAG1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

JAG1
Specificity
100 %
Genes
5 %
JAG1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

JAG1
Specificity
100 %
Genes
5 %
JAG1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

JAG1
Specificity
100 %
Genes
5 %
JAG1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

JAG1
Specificity
100 %
Genes
5 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Cholestasis.

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

AKR1D1, SLC25A13, JAG1, ATP8B1, ABCB4
Specificity
20 %
Genes
5 %
JAG1 Sequencing.

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

JAG1
Specificity
100 %
Genes
5 %
JAG1 Deletion/duplication analysis.

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

JAG1
Specificity
100 %
Genes
5 %
Cholestasis Deletion/duplication panel.

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

BAAT, TJP2, SERPINA1, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
13 %
Genes
5 %
Jaundice Deletion/duplication panel.

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

TJP2, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
20 %
Genes
5 %
Cholestasis Panel by next-generation sequencing (NGS).

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

HSD3B7, NOTCH2, SLC10A1, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, CYP7B1, SERPINA1, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
6 %
Genes
5 %
Jaundice Panel by next-generation sequencing (NGS).

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

TJP2, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
20 %
Genes
5 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

REN, MUC1, CRB2, BMPER, ANKS6, CEP83, CEP164, CSPP1, PDE6D, KIF14, TMEM107, CEP104, KIAA0556, IFT172, TCTN3, NOTCH2, GLIS3, B9D2, ARL13B, GLIS2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
5 %
Alagille Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

JAG1
Specificity
100 %
Genes
5 %
JAG1. Complete sequencing.

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

JAG1
Specificity
100 %
Genes
5 %
JAG1. Sequencing of the exons 1-6, 9, 12, 17, 20, 23 and 24.

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

JAG1
Specificity
100 %
Genes
5 %
JAG1. MLPA testing.

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

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome - JAG1 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome - JAG1 Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome - JAG1 Sequence and Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome - JAG1 Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

JAG1
Specificity
100 %
Genes
5 %
Neonatal Respiratory Distress Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Neonatal Respiratory Distress Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COPA, NOTCH2, SFTPB, ABCA3, NKX2-1, CSF2RB, CSF2RA, TERT, TERC, MARS, DKC1, FLNA, SLC7A7, GATA2, FOXF1, JAG1
Specificity
7 %
Genes
5 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Alagille Syndrome Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Alagille Syndrome Seq + Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
5 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MYO5B, NR1H4, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, NPC2, NPC1, LIPA, CFTR, SLC25A13, JAG1, ATP8B1, ABCB4 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Alagille Syndrome Seq.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

HYDIN, DNAH6, COPA, EIF2AK4, NOTCH2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, ABCA3, NKX2-1, DNAH11, KCNA5, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, CCDC40 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
5 %
Alagille Syndrome (deletion/duplication analysis of JAG1 gene).

By CGC Genetics in Portugal.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome (sequence analysis of JAG1 gene).

By CGC Genetics in Portugal.

JAG1
Specificity
100 %
Genes
5 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
12 %
Genes
10 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

HMX1, MIR184, SLC38A8, PXDN, ASPH, B3GLCT, BMP4, FOXE3, COL4A1, PTCH1, FGFR2, CYP1B1, JAG1, PITX2, FOXC1, PITX3, PAX6, VSX1
Specificity
12 %
Genes
10 %
JAG1-Related Alagille Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NR1H4, HSD3B7, NOTCH2, CLDN1, BAAT, VIPAS39, VPS33B, AKR1D1, TJP2, SERPINA1, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
7 %
Genes
5 %
Alagille Syndrome-1 via the JAG1 Gene.

By PreventionGenetics PreventionGenetics in United States.

JAG1
Specificity
100 %
Genes
5 %
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH2, TJP2, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
17 %
Genes
5 %
Alagille Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 144 more genes
Specificity
4 %
Genes
24 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
5 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAPKBP1, GANAB, SEC61A1, DZIP1L, DNAJB11, DICER1, MUC1, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
5 %
Alagille syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

NOTCH2, JAG1, ATP8B1
Specificity
34 %
Genes
5 %
Alagille syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

NOTCH2, JAG1, ATP8B1
Specificity
34 %
Genes
5 %
Alagille syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

NOTCH2, JAG1, ATP8B1
Specificity
34 %
Genes
5 %
Alagille syndrome 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome 1 NGS test.

By Connective Tissue Gene Tests in United States.

JAG1
Specificity
100 %
Genes
5 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
5 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
5 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
5 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
5 %
JAG1-Related Alagille Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

JAG1
Specificity
100 %
Genes
5 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
5 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
5 %
Single gene testing JAG1.

By CeGaT GmbH in Germany.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
5 %
Alagille syndrome, JAG1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

JAG1
Specificity
100 %
Genes
5 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
5 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
5 %
Alagille syndrome (JAG1).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

JAG1
Specificity
100 %
Genes
5 %
Tetralogy of Fallot.

By Praxis fuer Humangenetik Wien in Austria.

JAG1
Specificity
100 %
Genes
5 %
JAG1.

By Division Human Genetics Medical University Innsbruck in Austria.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome 1.

By MedGene in Slovakia.

JAG1
Specificity
100 %
Genes
5 %
Tetralogy of Fallot.

By MedGene in Slovakia.

JAG1
Specificity
100 %
Genes
5 %
Invitae Alagille Syndrome Panel.

By Invitae in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Alagille syndrome: JAG1 gene deletions-duplications analysis (MLPA).

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

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome: JAG1 gene sequence analysis.

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

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome: JAG1 gene sequence analysis (exons 1-6, 9, 12, 17, 20, 23-24).

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

JAG1
Specificity
100 %
Genes
5 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
5 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
2 %
Genes
10 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
5 %
Cholestasis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AKR1D1, SERPINA1, SLC25A13, JAG1, ATP8B1, ABCB4, ABCB11
Specificity
15 %
Genes
5 %
Alagille Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
JAG1.

By Fulgent Genetics Fulgent Genetics in United States.

JAG1
Specificity
100 %
Genes
5 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
5 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

MAPKBP1, GANAB, SEC61A1, DZIP1L, CRB2, ANKS6, CEP83, ZNF423, CEP164, IFT172, NOTCH2, GLIS2, NEK8, RPGRIP1L, TTC21B, SDCCAG8, WDR19, SIX5, DCDC2, OFD1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
5 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
5 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
5 %
Polycystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

GANAB, DZIP1L, SEC63, NOTCH2, PRKCSH, PKD1, PKD2, PKHD1, JAG1, LRP5
Specificity
10 %
Genes
5 %
Alagille syndrome type 1.

By Bioarray in Spain.

JAG1
Specificity
100 %
Genes
5 %
Alagille syndrome type 1.

By Bioarray in Spain.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome NGS and Deletion/Duplication Panel.

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

NOTCH2, JAG1, ATP8B1
Specificity
34 %
Genes
5 %
JAG1 Gene Sequencing and Deletion/Duplication Analysis.

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

JAG1
Specificity
100 %
Genes
5 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

FGF19, ONECUT1, HES1, ABCC4, ABCC3, SLCO2B1, SLCO1A2, SLC51B, SLC51A, CHMP5, FOXM1, CD14, MYO5B, NR1H4, COPA, CYP7A1, SEC63, SLCO1B3, SLCO1B1, HSD3B7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
5 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
5 %
TETRALOGY OF FALLOT.

By Laboratorio de Genetica Clinica SL in Spain.

JAG1
Specificity
100 %
Genes
5 %
ALAGILLE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Alagille syndrome type 1.

By LifeLabs Genetics in Canada.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome, Sequencing JAG1 Gene.

By Reference Laboratory Genetics in Spain.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome Type 1 , Sequencing Rest Exons JAG1 Gene.

By Reference Laboratory Genetics in Spain.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome, Sequencing Exons (1-6, 9, 12, 17, 20, 23, 24) JAG1 Gene.

By Reference Laboratory Genetics in Spain.

JAG1
Specificity
100 %
Genes
5 %
Alagille Syndrome Types 1 and 2 , Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes.

By Reference Laboratory Genetics in Spain.

NOTCH2, JAG1
Specificity
50 %
Genes
5 %
Alagille syndrome 1.

By Labor Dr. Wisplinghoff in Germany.

JAG1
Specificity
100 %
Genes
5 %
GATA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GATA5
Specificity
100 %
Genes
5 %
Connective Tissue Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
10 %
Connective Tissue Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
10 %
Connective Tissue Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
10 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
10 %
Aortic diseases Panel.

By Health in Code in Spain.

GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
15 %
Aorta Panel.

By Blueprint Genetics in Finland.

ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
10 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 165 more genes
Specificity
3 %
Genes
20 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 1693 more genes
Specificity
1 %
Genes
39 %
Comprehensive Cardiac Panel.

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

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

View the complete list with 87 more genes
Specificity
2 %
Genes
10 %
Atrioventricular Block Panel.

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

NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
5 %
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
5 %
Heterotaxy V2 Panel.

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

BCL9L, CFAP53, NAT10, CFC1, GATA6, ACVR2B, CRELD1, LEFTY2, SHROOM3, GDF1, ZIC3, GJA1, NKX2-5, DNAH5, DNAH11, FOXH1, NODAL
Specificity
24 %
Genes
20 %
NKX2.5 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

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

By Genetic Services Laboratory University of Chicago in United States.

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

By Institute for Human Genetics University Clinic Freiburg in Germany.

NKX2-5
Specificity
100 %
Genes
5 %
Comprehensive Arrhythmia Panel.

By GeneDx in United States.

DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
CMNext with TTN.

By Ambry Genetics in United States.

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

View the complete list with 35 more genes
Specificity
4 %
Genes
10 %
DCMNext with TTN.

By Ambry Genetics in United States.

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

View the complete list with 16 more genes
Specificity
6 %
Genes
10 %
RhythmNext.

By Ambry Genetics in United States.

TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
5 %
RhythmFirst reflex RhythmNext.

By Ambry Genetics in United States.

TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)

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

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

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

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

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

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

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

By PreventionGenetics PreventionGenetics in United States.

TRHR, TRH, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MMP21, PIH1D3, AK7, ANKS6, CFAP53, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3 , (...)

View the complete list with 16 more genes
Specificity
9 %
Genes
15 %
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 27 more genes
Specificity
5 %
Genes
10 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 62 more genes
Specificity
3 %
Genes
10 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, TCTN3, CFAP53, B9D2, ACVR2B, LEFTY2, ARL13B, GLIS2, CPLANE1, CEP41, GDF1, KIF7, NEK8, RPGRIP1L , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
15 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
10 %
Atrioventricular block Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
5 %
Heterotaxy panel.

By Centogene AG - the Rare Disease Company in Germany.

CFC1, ACVR2B, CRELD1, LEFTY2, GDF1, ZIC3, GJA1, NKX2-5, FOXH1, NODAL
Specificity
30 %
Genes
15 %
Atrial septal defect with atrioventricular conduction defects.

By Centogene AG - the Rare Disease Company in Germany.

NKX2-5
Specificity
100 %
Genes
5 %
Single gene testing NKX2-5.

By CeGaT GmbH in Germany.

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

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
10 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

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

View the complete list with 16 more genes
Specificity
9 %
Genes
15 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
10 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
10 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...)

View the complete list with 57 more genes
Specificity
3 %
Genes
10 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

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

View the complete list with 17 more genes
Specificity
9 %
Genes
15 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
10 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

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

View the complete list with 19 more genes
Specificity
3 %
Genes
5 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

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

View the complete list with 47 more genes
Specificity
3 %
Genes
10 %
CONGENITAL HYPOTHYROIDISM.

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

PAX9, TRHR, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD , (...)

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
10 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, ZNF423, CEP164, B9D2, ACVR2B, CRELD1, LEFTY2, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, GDF1, IFT43, KIF7, NEK8 , (...)

View the complete list with 92 more genes
Specificity
3 %
Genes
15 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 97 more genes
Specificity
3 %
Genes
15 %
Arrhythmias: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 86 more genes
Specificity
2 %
Genes
10 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
5 %
Heterotaxy and Situs Inversus NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CFC1, ACVR2B, LEFTY2, GDF1, ZIC3, NKX2-5, DNAI1, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, FOXH1, NODAL, CCDC39, INVS
Specificity
15 %
Genes
15 %
NKX2-5.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Blueprint Genetics in Finland.

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

View the complete list with 35 more genes
Specificity
4 %
Genes
10 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

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

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

By Bioarray in Spain.

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

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

THRA, TSHB, PAX8, NKX2-5, TSHR
Specificity
20 %
Genes
5 %
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
5 %
Cardiac Arrhythmia Exome Panel.

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

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

View the complete list with 31 more genes
Specificity
4 %
Genes
10 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

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

By Laboratorio de Genetica Clinica SL in Spain.

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

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

NKX2-5
Specificity
100 %
Genes
5 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR
Specificity
10 %
Genes
10 %
Atrial Fibrillation Panel.

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

GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA
Specificity
7 %
Genes
5 %
GJA5.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GJA5
Specificity
100 %
Genes
5 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

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

CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
5 %
Atrial fibrillation, familial 11 (sequence analysis of GJA5 gene).

By CGC Genetics in Portugal.

GJA5
Specificity
100 %
Genes
5 %
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KCNE5, GJA5, NPPA, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2
Specificity
7 %
Genes
5 %
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJA5
Specificity
100 %
Genes
5 %
Atrial fibrillation type 11.

By Centogene AG - the Rare Disease Company in Germany.

GJA5
Specificity
100 %
Genes
5 %
Atrial Fibrillation and Short QT Syndrome Panel.

By CeGaT GmbH in Germany.

GJA5, NPPA, KCNA5, SCN4B, KCNE2, CACNB2, SCN3B, SCN2B, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, SCN1B, KCNH2, KCNJ2
Specificity
6 %
Genes
5 %
Cardio-channelopathy-gene-panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 48 more genes
Specificity
3 %
Genes
10 %
GJA5.

By Fulgent Genetics Fulgent Genetics in United States.

GJA5
Specificity
100 %
Genes
5 %
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

GJA5, NPPA, NUP155, KCNA5, SCN4B, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, SCN5A, SCN1B, KCNJ2
Specificity
8 %
Genes
5 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 75 more genes
Specificity
4 %
Genes
15 %
NKX2-6.

By Fulgent Genetics Fulgent Genetics in United States.

NKX2-6
Specificity
100 %
Genes
5 %
TRUNCUS ARTERIOSUS COMMUNIS.

By Laboratorio de Genetica Clinica SL in Spain.

NKX2-6
Specificity
100 %
Genes
5 %
Maturity-Onset Diabetes of the Young.

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

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, CISD2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
GATA6 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

GATA6
Specificity
100 %
Genes
5 %
GATA6 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GATA6
Specificity
100 %
Genes
5 %
Atrial septal defect 9 (sequence analysis of GATA6 gene).

By CGC Genetics in Portugal.

GATA6
Specificity
100 %
Genes
5 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

GATA6, PTF1A, GLIS3, RFX6, IER3IP1, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, HNF1B, PAX6
Specificity
8 %
Genes
5 %
Pancreatic agenesis and congenital heart defects.

By Centogene AG - the Rare Disease Company in Germany.

GATA6
Specificity
100 %
Genes
5 %
Tetralogy of Fallot.

By Centogene AG - the Rare Disease Company in Germany.

GATA6
Specificity
100 %
Genes
5 %
Atrial septal defect type 9.

By Centogene AG - the Rare Disease Company in Germany.

GATA6
Specificity
100 %
Genes
5 %
Atrioventricular septal defect type 5.

By Centogene AG - the Rare Disease Company in Germany.

GATA6
Specificity
100 %
Genes
5 %
Single gene testing GATA6.

By CeGaT GmbH in Germany.

GATA6
Specificity
100 %
Genes
5 %
Maturity-onset diabetes of the young MODY.

By Health in Code in Spain.

TBC1D4, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, IER3IP1, FOXP3, HNF4A, PDX1, INS, KCNJ11, CEL, GCK, WFS1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

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

View the complete list with 64 more genes
Specificity
2 %
Genes
5 %
Pancreatic Agenesis and Congenital Heart Defects.

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

GATA6
Specificity
100 %
Genes
5 %
Diabetes mellitus, neonatal permanent.

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

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, PAX6, NEUROD1
Specificity
6 %
Genes
5 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
5 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
5 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, HADH, IER3IP1, CP, FOXP3, HNF4A, PDX1, INS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
GATA6.

By Fulgent Genetics Fulgent Genetics in United States.

GATA6
Specificity
100 %
Genes
5 %
Atrial Fibrillation Panel.

By Blueprint Genetics in Finland.

SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA
Specificity
6 %
Genes
5 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 135 more genes
Specificity
2 %
Genes
10 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

ZFP57, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, SLC2A2, HADH, FOXP3, HNF4A, PDX1, INS, KCNJ11, ABCC8, GLUD1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 50 more genes
Specificity
3 %
Genes
10 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

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

View the complete list with 33 more genes
Specificity
4 %
Genes
10 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, RFX6, FOXP3, SLC19A2, PDX1, INS, KCNJ11, ABCC8, GCK, WFS1, HNF1B, NEUROD1
Specificity
7 %
Genes
5 %
Atrial septal defect type 8.

By Centogene AG - the Rare Disease Company in Germany.

CITED2
Specificity
100 %
Genes
5 %
Ventricular septal defect type 2.

By Centogene AG - the Rare Disease Company in Germany.

CITED2
Specificity
100 %
Genes
5 %
CITED2.

By Fulgent Genetics Fulgent Genetics in United States.

CITED2
Specificity
100 %
Genes
5 %
Optic Atrophy and Early Glaucoma Panel.

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

SH3PXD2B, SLC4A4, LTBP2, ASB10, FOXE3, MAF, TBK1, ACVR1, CANT1, NR2F1, COL4A1, SBF2, MYOC, LMX1B, NDUFS1, CISD2, SPG7, TMEM126A, MTPAP, ACO2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
5 %
Hearing Loss Panel.

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

MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
5 %
Axenfeld-Rieger syndrome.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

B3GLCT, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
15 %
Genes
5 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

KERA, B3GLCT, FOXE3, COL4A1, LAMB2, PORCN, PAX2, CYP1B1, PITX2, FOXC1, PITX3, PAX6, EYA1
Specificity
8 %
Genes
5 %
Axenfeld-Rieger syndrome.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

PITX2, FOXC1
Specificity
50 %
Genes
5 %
FOXC1 mutation analysis.

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

FOXC1
Specificity
100 %
Genes
5 %
FOXC1. Complete sequencing.

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

FOXC1
Specificity
100 %
Genes
5 %
FOXC1. Complete sequencing Secuenciación completa.

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

FOXC1
Specificity
100 %
Genes
5 %
Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene).

By CGC Genetics in Portugal.

FOXC1
Specificity
100 %
Genes
5 %
Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes).

By CGC Genetics in Portugal.

PITX2, FOXC1
Specificity
50 %
Genes
5 %
Peters anomaly (sequence analysis of FOXC1 gene).

By CGC Genetics in Portugal.

FOXC1
Specificity
100 %
Genes
5 %
FOXC1-Related Disorders via the FOXC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FOXC1
Specificity
100 %
Genes
5 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ASPH, B3GLCT, SH3PXD2B, FOXE3, COL4A1, CYP1B1, PITX2, FOXC1, PAX6
Specificity
12 %
Genes
5 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL8A1, OPTC, ATOH7, COL8A2, WDR36, SH3PXD2B, SLC4A4, LTBP2, COL4A1, MYOC, LMX1B, CYP1B1, MFRP, PITX2, FOXC1, OPTN, PAX6
Specificity
6 %
Genes
5 %
Cataract.

By MGZ Medical Genetics Center in Germany.

TMEM114, JAM3, MIR184, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, ERCC1, CRYAA , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
FOXC1.

By MGZ Medical Genetics Center in Germany.

FOXC1
Specificity
100 %
Genes
5 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
5 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

MIR184, SLC38A8, ASPH, COL4A2, B3GLCT, LTBP2, FOXE3, COL4A1, MYOC, CYP1B1, PITX2, FOXC1, PAX6, EYA1
Specificity
8 %
Genes
5 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

UNC45B, LSS, LEMD2, SIPA1L3, CRYGS, HSF4, P3H2, BFSP1, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, SLC16A12, MIP, CRYBA1, CRYBA2, BFSP2, CHMP4B, CRYGD , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
5 %
Axenfeld-Rieger syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
5 %
Iridogoniodysgenesis, type 1.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
5 %
Rieger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FOXC1
Specificity
100 %
Genes
5 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Single gene testing FOXC1.

By CeGaT GmbH in Germany.

FOXC1
Specificity
100 %
Genes
5 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
Glaucoma.

By Asper Biogene Asper Biogene LLC in Estonia.

LOXL1, NTF4, LTBP3, COL18A1, WDR36, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, SBF2, MYOC, LMX1B, CYP1B1, PITX2, FOXC1, OPTN, PITX3, PAX6, BEST1
Specificity
5 %
Genes
5 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
10 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
5 %
Invitae Congenital Cataracts Panel.

By Invitae in United States.

CRYGS, HSF4, BFSP1, EPHA2, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CRYGD, CRYAA, CRYBB3, CRYBB1, GCNT2, GJA8, FAM126A, VSX2, CTDP1, MAF, SIL1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Invitae Axenfeld-Rieger Panel.

By Invitae in United States.

PITX2, FOXC1
Specificity
50 %
Genes
5 %
Invitae Early-Onset Glaucoma Panel.

By Invitae in United States.

CYP1B1, PITX2, FOXC1
Specificity
34 %
Genes
5 %
Glaucoma.

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

OLFM2, LOXL1, NTF4, OPTC, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
5 %
Glaucoma (Advance).

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

OLFM2, LOXL1, NTF4, OPTC, COL8A2, COL18A1, WDR36, PRSS56, VSX2, SH3PXD2B, SLC4A4, LTBP2, ASB10, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
5 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
5 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
5 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
5 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
5 %
Glaucoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LOXL1, NTF4, COL18A1, WDR36, SLC4A4, LTBP2, ACVR1, CANT1, ISPD, POMT1, SBF2, RPS19, MYOC, LMX1B, CA4, RRM2B, CYP1B1, FOXC1, OPA1, OPTN , (...)

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

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 484 more genes
Specificity
1 %
Genes
5 %
FOXC1.

By Fulgent Genetics Fulgent Genetics in United States.

FOXC1
Specificity
100 %
Genes
5 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

WDR36, TEK, LTBP2, FOXE3, MAF, TBK1, CNTNAP2, COL4A1, MYOC, LMX1B, TMEM126A, OPA3, CYP1B1, PITX2, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
5 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

FOXC1
Specificity
100 %
Genes
5 %
Axenfeld-Rieger syndrome.

By Bioarray in Spain.

FOXC1
Specificity
100 %
Genes
5 %
AXENFELD-RIEGER SYNDROME (RIEGER DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

PITX2, FOXC1
Specificity
50 %
Genes
5 %
Axenfeld-Rieger Syndrome Type 3 , Sequencing FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
5 %
Iridogoniodysgenesis Type 1 , Sequencing FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
5 %
Axenfeld-Rieger Syndrome Type 3 , Deletions-Duplications (MLPA) FOXC1 Gene.

By Reference Laboratory Genetics in Spain.

FOXC1
Specificity
100 %
Genes
5 %
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

LOXL1, NTF4, COL8A2, WDR36, PRSS56, VSX2, SH3PXD2B, LTBP2, ASB10, MYOC, RPGRIP1, CYP1B1, MFRP, FOXC1, OPA1, OPTN, PAX6
Specificity
6 %
Genes
5 %
Anterior Segment Dysgenesis (Peters Anomaly) , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

PXDN, FOXE3, CYP1B1, PITX2, FOXC1, PITX3, PAX6
Specificity
15 %
Genes
5 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

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

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

View the complete list with 31 more genes
Specificity
2 %
Genes
5 %
Hypertrophic Cardiomyopathy Panel.

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

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

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

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, CAV3, GLA, TTR
Specificity
6 %
Genes
5 %
Dilated cardiomyopathy - full panel.

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

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

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

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

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

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

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, CAV3, GLA, TTR
Specificity
6 %
Genes
5 %
Pan-cardiomyopathy panel.

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

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

View the complete list with 25 more genes
Specificity
3 %
Genes
5 %
Cardiomyopathy Panel.

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

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

View the complete list with 92 more genes
Specificity
2 %
Genes
10 %
Dilated Cardiomyopathy Panel.

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

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

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
Hypertrophic Cardiomyopathy Panel.

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

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

View the complete list with 16 more genes
Specificity
3 %
Genes
5 %
Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy.

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

VCL, DTNA, MYL3, ACTN2, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
9 %
Genes
5 %
Left Ventricular Noncompaction (13 genes).

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

VCL, MYL3, MYL2, ACTN2, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, DES, LMNA, TAZ
Specificity
8 %
Genes
5 %
Dilated Cardiomyopathy Panel (30 genes).

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

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

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Hypertrophic Cardiomyopathy Panel (23 genes).

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

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, MYBPC3, LDB3, CAV3, SURF1, SCO2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Comprehensive Cardiomyopathy Panel (37 genes).

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

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

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
DCM and DMD related Cardiomyopathy.

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

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

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Targeted CM panel.

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

DSC2, TNNT2, TPM1, JUP, DSG2, NEXN, TNNI3, PKP2, SCN5A, TMEM43, MYBPC3, LDB3, MYH7, LMNA, DSP
Specificity
7 %
Genes
5 %
Cardiac Arrhythmia Gene Panel.

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

SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
TPM1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TPM1
Specificity
100 %
Genes
5 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

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

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

View the complete list with 33 more genes
Specificity
2 %
Genes
5 %
HCM Panel (20 Genes).

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, PTPN11, GLA, RAF1, TTR
Specificity
5 %
Genes
5 %
Pan Cardiomyopathy Panel (62 Genes).

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

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

View the complete list with 41 more genes
Specificity
2 %
Genes
5 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

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

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

View the complete list with 65 more genes
Specificity
2 %
Genes
5 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

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

View the complete list with 56 more genes
Specificity
2 %
Genes
5 %
HCM Sequencing Panel.

By GeneDx in United States.

MT-TQ, MT-TI, MT-TG, MYL3, MYL2, TNNT2, TPM1, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, CAV3, MT-TK, GLA, TTR
Specificity
6 %
Genes
5 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
HCMNext.

By Ambry Genetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
HCMFirst reflex HCMNext.

By Ambry Genetics in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
LVNCNext.

By Ambry Genetics in United States.

TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
13 %
Genes
5 %
TPM1 mutation analysis.

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

TPM1
Specificity
100 %
Genes
5 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

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

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

View the complete list with 31 more genes
Specificity
2 %
Genes
5 %
ACTC1, MYBPC3, MYH6, MYH7, MYL2, MYL3, TCAP, TNNC1, TNNI3, TNNT2, TPM1. NextGeneDx.Complete sequencing by NGS.

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

MYL3, MYL2, TNNT2, TPM1, MYH6, TNNI3, TNNC1, ACTC1, TCAP, MYBPC3, MYH7
Specificity
10 %
Genes
5 %
ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS.

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

VCL, TPM1, MYH6, TNNC1, ACTC1, TCAP, LDB3, DES, PSEN2, PSEN1
Specificity
10 %
Genes
5 %
MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, ACTC1. NextGeneDx.Complete sequencing by NGS.

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

MYL3, TNNT2, TPM1, TNNI3, ACTC1, MYBPC3, MYH7
Specificity
15 %
Genes
5 %
Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes).

By CGC Genetics in Portugal.

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

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Left ventricular noncompaction (LVNC, NGS panel for 13 genes).

By CGC Genetics in Portugal.

DTNA, CSRP3, TNNT2, TPM1, PLN, ACTC1, SGCD, TCAP, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
8 %
Genes
5 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes).

By CGC Genetics in Portugal.

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

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Dilated cardiomyopathy (CMD, NGS panel for 10 genes).

By CGC Genetics in Portugal.

CSRP3, TNNT2, TPM1, PLN, ACTC1, SGCD, TCAP, MYBPC3, MYH7, LMNA
Specificity
10 %
Genes
5 %
Hypertrophic cardiomyopathy (HCM, NGS panel for 10 genes).

By CGC Genetics in Portugal.

MYL3, MYL2, CSRP3, TNNT2, TPM1, TNNI3, ACTC1, TCAP, MYBPC3, MYH7
Specificity
10 %
Genes
5 %
Cardiomyopathy, dilated 1Y (sequence analysis of TPM1 gene).

By CGC Genetics in Portugal.

TPM1
Specificity
100 %
Genes
5 %
Cardiomyopathy, familial hypertrophic 3 (sequence analysis of TPM1 gene).

By CGC Genetics in Portugal.

TPM1
Specificity
100 %
Genes
5 %
Hypertrophic cardiomyopathy (sequence analysis of MYH7,MYBPC3,TNNT2,TNNI3 and TPM1 genes).

By CGC Genetics in Portugal.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).

By CGC Genetics in Portugal.

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

View the complete list with 39 more genes
Specificity
2 %
Genes
5 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).

By CGC Genetics in Portugal.

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

View the complete list with 16 more genes
Specificity
3 %
Genes
5 %
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TPM1
Specificity
100 %
Genes
5 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
5 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
Cardiomyopathy.

By Institute of Human Genetics Cologne University in Germany.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Cardiomyopathy.

By Institute of Human Genetics Cologne University in Germany.

TNNT2, TPM1, TNNI3, ACTA1, MYBPC3, MYH7
Specificity
17 %
Genes
5 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
TPM1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TPM1
Specificity
100 %
Genes
5 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
5 %
Cardiomyopathy, familial hypertrophic type 3.

By Centogene AG - the Rare Disease Company in Germany.

TPM1
Specificity
100 %
Genes
5 %
Cardiomyopathy, dilated type 1Y.

By Centogene AG - the Rare Disease Company in Germany.

TPM1
Specificity
100 %
Genes
5 %
Cardiomyopathy, hypertrophic Panel.

By CeGaT GmbH in Germany.

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

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel.

By CeGaT GmbH in Germany.

MIB1, DTNA, TNNT2, TPM1, PRDM16, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
10 %
Genes
5 %
Hypertrophic cardiomyopathy, TPM1.

By GGA - Galil Genetic Analysis in Israel.

TPM1
Specificity
100 %
Genes
5 %
Hypertrophic Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
5 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
TPM1 gene sequencing.

By Health in Code in Spain.

TPM1
Specificity
100 %
Genes
5 %
Standard hypertrophic cardiomyopathy Stage 1.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Standard dilated cardiomyopathy Stage 2.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Dilated cardiomyopathy with conduction disorders Stage 2.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Dilated cardiomyopathy with restrictive phenotype Stage 1.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Dilated cardiomyopathy associated with hypertrabeculation Stage 1.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Left ventricular non-compaction neonatal.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, ACTC1, MYBPC3, LDB3, MYH7, TAZ
Specificity
13 %
Genes
5 %
Left ventricular non-compaction adult Stage 1.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, ACTC1, MYBPC3, MYH7
Specificity
17 %
Genes
5 %
Restrictive cardiomyopathy Stage 1.

By Health in Code in Spain.

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
5 %
Hypertrophic Cardiomyopathy Short Panel.

By Health in Code in Spain.

MYL3, MYL2, TNNT2, TPM1, PRKAG2, TNNI3, TNNC1, LAMP2, ACTA1, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR
Specificity
7 %
Genes
5 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

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

View the complete list with 70 more genes
Specificity
2 %
Genes
5 %
Hypertrophic cardiomyopathy panel.

By Health in Code in Spain.

MYL3, MYL2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, FLNC, MYH7, DES, PTPN11, GLA, TTR
Specificity
6 %
Genes
5 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

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

View the complete list with 19 more genes
Specificity
3 %
Genes
5 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

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

View the complete list with 84 more genes
Specificity
1 %
Genes
5 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
5 %
TPM1-Related Familial Hypertrophic Cardiomyopathy.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

TPM1
Specificity
100 %
Genes
5 %
TPM1-Related Dilated Cardiomyopathy.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

TPM1
Specificity
100 %
Genes
5 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

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

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

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

View the complete list with 21 more genes
Specificity
3 %
Genes
5 %
Invitae Left Ventricular Noncompaction Panel.

By Invitae in United States.

VCL, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, MYH7, LMNA, TAZ, DSP
Specificity
7 %
Genes
5 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

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

View the complete list with 93 more genes
Specificity
1 %
Genes
5 %
Invitae Hypertrophic Cardiomyopathy Panel.

By Invitae in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, FLNC, MYH7 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
Hypertrophic cardiomyopathy, Familial: MYH7, MYBPC3, TNNI3, TNNT2, TPM1 genes sequence analysis.

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

TNNT2, TPM1, TNNI3, MYBPC3, MYH7
Specificity
20 %
Genes
5 %
Hypertrophic cardiomyopathy, Familial: TPM1 gene sequence analysis.

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

TPM1
Specificity
100 %
Genes
5 %
CARDIOMYOPATHY HYPERTROPHIC PANEL.

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

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

View the complete list with 6 more genes
Specificity
4 %
Genes
5 %
CARDIOMYOPATHY, DILATED (DCM.

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

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

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Left ventricular noncompaction.

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

DTNA, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
12 %
Genes
5 %
Hypertrophic Cardiomyopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MYL3, MYL2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, PRKAG2, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, MYBPC3, MYH7, TTN, CAV3, GLA, TTR
Specificity
6 %
Genes
5 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 19 more genes
Specificity
3 %
Genes
5 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 42 more genes
Specificity
2 %
Genes
5 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 45 more genes
Specificity
2 %
Genes
5 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
5 %
Dilated Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 43 more genes
Specificity
2 %
Genes
5 %
TPM1.

By Fulgent Genetics Fulgent Genetics in United States.

TPM1
Specificity
100 %
Genes
5 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
5 %
Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

MYL3, MYL2, CSRP3, TNNT2, TPM1, TNNI3, TNNC1, ACTC1, LAMP2, TCAP, MYBPC3, FHL1, LDB3, FLNC, MYH7, BRAF, CRYAB
Specificity
6 %
Genes
5 %
Cardiomyopathy, dilated type 1Y.

By Bioarray in Spain.

TPM1
Specificity
100 %
Genes
5 %
CardioGene Set.

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

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

View the complete list with 60 more genes
Specificity
2 %
Genes
5 %
Cardiomyopathy Gene Set.

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

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

View the complete list with 39 more genes
Specificity
2 %
Genes
5 %
Dilated Cardiomyopathy Gene Set.

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

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

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Hypertrophic Cardiomyopathy Gene Set.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, LAMP2, MYBPC3, MYH7, MAP2K2, RIT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Noncompaction Cardiomyopathy NGS and Deletion/Duplication Panel.

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

DTNA, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA
Specificity
13 %
Genes
5 %
Hypertrophic Cardiomyopathy NGS and Deletion/Duplication Panel.

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

CALR3, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, TCAP, MYBPC3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
TPM1 Gene Sequencing and Deletion/Duplication Analysis.

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

TPM1
Specificity
100 %
Genes
5 %
Comprehensive Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
Dilated Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Hypertrophic Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

MT-TQ, MT-TI, MT-TG, MYL3, MYL2, TNNT2, TPM1, PRKAG2, TNNI3, TNNC1, BMPR2, LAMP2, MYBPC3, MYH7, CAV3, MT-TK, GLA, TTR
Specificity
6 %
Genes
5 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

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

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Wolff-Parkinson White Panel by NGS.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Cardiomyopathy, familial hypertrophic Panel by NGS.

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

MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, TCAP, MYBPC3, MYH7 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Familial Dilated Cardiomyopathy Panel by NGS.

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

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

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
Left Ventricular Noncompaction Panel by NGS.

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

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

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
TPM1 Gene, entire coding region or targeted variant.

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

TPM1
Specificity
100 %
Genes
5 %
FAMILIAL DILATED CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

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

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, TCAP, MYBPC3, MYH7, TTN, CAV3
Specificity
5 %
Genes
5 %
Familial Hypertrophic Cardiomyopathy , Sequencing TPM1 Gene.

By Reference Laboratory Genetics in Spain.

TPM1
Specificity
100 %
Genes
5 %
Left Ventricular Noncompaction , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

DTNA, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, TAZ
Specificity
13 %
Genes
5 %
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
5 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

VCL, DTNA, TNNT2, TPM1, ACTC1, CASQ2, RYR2, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DNAJC19
Specificity
8 %
Genes
5 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 28 more genes
Specificity
3 %
Genes
5 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 32 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 40 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 49 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 50 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 67 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 75 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 57 more genes
Specificity
2 %
Genes
5 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 58 more genes
Specificity
2 %
Genes
5 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
5 %
Phosphorus Hypertrophic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

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

View the complete list with 22 more genes
Specificity
3 %
Genes
5 %
Phosphorus Left Ventricular Noncompaction Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, ACTN2, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DSP
Specificity
6 %
Genes
5 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
5 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Transposition of great arteries, dextro-looped 3 (sequence analysis of GDF1 gene).

By CGC Genetics in Portugal.

GDF1
Specificity
100 %
Genes
5 %
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GDF1
Specificity
100 %
Genes
5 %
Transposition of great arteries, dextro-looped 3.

By Centogene AG - the Rare Disease Company in Germany.

GDF1
Specificity
100 %
Genes
5 %
GDF1.

By Fulgent Genetics Fulgent Genetics in United States.

GDF1
Specificity
100 %
Genes
5 %
Heterotaxy and Situs Inversus Panel.

By Blueprint Genetics in Finland.

PKD1L1, MMP21, PIH1D3, ANKS6, ACVR2B, LEFTY2, GDF1, ZIC3, DNAI1, DNAH5, DNAH11, DNAI2, DNAAF2, DNAAF1, CCDC40, DNAL1, DNAAF3, CCDC103, DNAAF5, LRRC6 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
10 %
IVEMARK SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GDF1
Specificity
100 %
Genes
5 %
DOUBLE OUTLET RIGHT VENTRICLE.

By Laboratorio de Genetica Clinica SL in Spain.

GDF1, ZIC3
Specificity
50 %
Genes
5 %
CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA).

By Laboratorio de Genetica Clinica SL in Spain.

MED13L, GDF1, ZIC3
Specificity
34 %
Genes
5 %
Transposition of the Great Arteries , Panel Massive Sequencing (NGS) GDF1, MED13L Genes.

By Reference Laboratory Genetics in Spain.

MED13L, GDF1
Specificity
50 %
Genes
5 %
NGS Vascular Disorders Panel.

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

FLT4, TEK, PTPN14, KIF11, STAMBP, VEGFC, GLMN, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FOXC2, PDCD10, CCM2, KRIT1, ENG, GATA2, SMAD4, GJC2 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
10 %
FLT4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FLT4
Specificity
100 %
Genes
5 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

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

CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
10 %
FLT4. Complete sequencing.

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

FLT4
Specificity
100 %
Genes
5 %
Milroy disease (sequence analysis of 17 to 26 exon of FLT4 gene).

By CGC Genetics in Portugal.

FLT4
Specificity
100 %
Genes
5 %
Milroy disease (sequence analysis of FLT4 gene).

By CGC Genetics in Portugal.

FLT4
Specificity
100 %
Genes
5 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, FAT4, PIEZO1, FOXC2, GATA2, GJC2
Specificity
17 %
Genes
10 %
Milroy Disease (Lymphedema Type I) via the FLT4 Gene.

By PreventionGenetics PreventionGenetics in United States.

FLT4
Specificity
100 %
Genes
5 %
Lymphedema, hereditary, type 1A.

By Centogene AG - the Rare Disease Company in Germany.

FLT4
Specificity
100 %
Genes
5 %
Single gene testing FLT4.

By CeGaT GmbH in Germany.

FLT4
Specificity
100 %
Genes
5 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

SERPING1, FLT4, KIF11, VEGFC, GDF2, ACVRL1, CCBE1, SOX18, RASA1, FAT4, FOXC2, TREX1, PDCD10, CCM2, KRIT1, ENG, GATA2, GJC2
Specificity
12 %
Genes
10 %
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

EPHB4, ITGA9, GJA1, FLT4, PTPN14, KIF11, VEGFC, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, HGF, GATA2, SOS1, PTPN11, NRAS, KRAS, IKBKG , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
15 %
Milroy disease: FLT4 (VEGFR3) gene sequence analysis (exons 17-26).

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

FLT4
Specificity
100 %
Genes
5 %
LYMPHEDEMA.

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

FLT4, KIF11, ZMPSTE24, CCBE1, SOX18, FOXC2, LMNA, GATA2, GJC2
Specificity
23 %
Genes
10 %
FLT4.

By Fulgent Genetics Fulgent Genetics in United States.

FLT4
Specificity
100 %
Genes
5 %
Lymphatic Malformations and Related Disorders Panel.

By Blueprint Genetics in Finland.

PIK3CA, FLT4, KIF11, CCBE1, SOX18, RASA1, FAT4, PIEZO1, FOXC2, GATA2, GJC2
Specificity
19 %
Genes
10 %
Hereditary lymphedema type I.

By Bioarray in Spain.

FLT4
Specificity
100 %
Genes
5 %
Thoracic Tumors Gene Set.

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

KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
5 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
10 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
10 %
Milroy Disease , Sequencing FLT4 (VEGFR3) Gene.

By Reference Laboratory Genetics in Spain.

FLT4
Specificity
100 %
Genes
5 %
Milroy Disease, Sequencing Exons (17-28) FLT4 Gene.

By Reference Laboratory Genetics in Spain.

FLT4
Specificity
100 %
Genes
5 %
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

FLT4, KIF11, VEGFC, ZMPSTE24, SOX18, FOXC2, GATA2
Specificity
29 %
Genes
10 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
10 %
Milroy Disease: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FLT4
Specificity
100 %
Genes
5 %
Non-immune Hydrops Panel.

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

PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
5 %
FOXC2. Complete sequencing.

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

FOXC2
Specificity
100 %
Genes
5 %
Lymphedema-distichiasis syndrome (sequence analysis of FOXC2 gene).

By CGC Genetics in Portugal.

FOXC2
Specificity
100 %
Genes
5 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics in Portugal.

MYCN, FOXC2, FOXF1
Specificity
34 %
Genes
5 %
Alveolar capillary dysplasia with misalignment of pulmonary veins (deletions/duplications analysis of 16q24.1 region).

By CGC Genetics in Portugal.

MYCN, FOXC2, FOXF1
Specificity
34 %
Genes
5 %
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FOXC2
Specificity
100 %
Genes
5 %
Lymphedema-distichiasis syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FOXC2
Specificity
100 %
Genes
5 %
Lymphedema-distichiasis syndrome: FOXC2 gene sequence analysis.

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

FOXC2
Specificity
100 %
Genes
5 %
FOXC2.

By Fulgent Genetics Fulgent Genetics in United States.

FOXC2
Specificity
100 %
Genes
5 %
Renal Malformation Panel.

By Blueprint Genetics in Finland.

DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Lymphedema - distichiasis.

By Bioarray in Spain.

FOXC2
Specificity
100 %
Genes
5 %
LYMPHEDEMA-DISTICHIASIS SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FOXC2
Specificity
100 %
Genes
5 %
Lymphedema-Distichiasis Syndrome , Sequencing FOXC2 Gene.

By Reference Laboratory Genetics in Spain.

FOXC2
Specificity
100 %
Genes
5 %
Lymphedema-Distichiasis Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FOXC2
Specificity
100 %
Genes
5 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
5 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
5 %
Progressive myoclonus epilepsy type 8.

By Centogene AG - the Rare Disease Company in Germany.

CERS1
Specificity
100 %
Genes
5 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
5 %
NCL and Progressive Myoclonic Epilepsy Panel.

By Blueprint Genetics in Finland.

CERS1, NEU1, SERPINI1, ATP13A2, MFSD8, DNAJC5, CTSF, BRAT1, TBC1D24, ASAH1, SCARB2, EPM2A, KCNC1, GABRB2, FOLR1, PRICKLE1, KCTD7, NHLRC1, GOSR2, CSTB , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
5 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

EPHB4, STAMBP, RASA1, PTEN
Specificity
25 %
Genes
5 %
EPHB4.

By Fulgent Genetics Fulgent Genetics in United States.

EPHB4
Specificity
100 %
Genes
5 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, PLOD1, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A1, FBLN5
Specificity
5 %
Genes
5 %
NGS Connective Tissue Disorders Panel.

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

ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
5 %
Aortic valve disease, NOTCH1.

By Center for Human Genetics, Inc in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Thoracic aortic aneurysms and aortic dissection - full panel.

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

MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FBN1, COL3A1
Specificity
10 %
Genes
5 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

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

MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FBN1, COL3A1
Specificity
10 %
Genes
5 %
Connective Tissue Disorders Panel.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Familial Aneurysm and Aortopathy.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1, FLT3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
5 %
MyeloidDx by NGS.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

TET2-AS1, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
5 %
NOTCH1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NOTCH1
Specificity
100 %
Genes
5 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
NOTCH1. Complete sequencing.

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

NOTCH1
Specificity
100 %
Genes
5 %
NOTCH1 Sequence Analysis.

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

NOTCH1
Specificity
100 %
Genes
5 %
Aortic Valve disease.

By Exeter Molecular Genetics Laboratory in United Kingdom.

NOTCH1
Specificity
100 %
Genes
5 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
5 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
5 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
5 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, FBN1, COL3A1
Specificity
6 %
Genes
5 %
Adams-Oliver syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, NOTCH1
Specificity
17 %
Genes
5 %
Adams-Oliver syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, NOTCH1
Specificity
17 %
Genes
5 %
Adams-Oliver syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, NOTCH1
Specificity
17 %
Genes
5 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
5 %
Adams-Oliver syndrome NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Adams-Oliver syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Aortic valve disease 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Aortic valve disease 1 NGS test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Aortic valve disease 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Adams-Oliver syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

TBX4, DVL1, COL4A2, EIF2AK4, NOTCH2, DNAI1, BMPR2, DNAH5, NME8, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, DNAAF1, DNAAF3, SMAD9, CAV1, KCNK3, DNAAF4 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
5 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, CBS, FBN1, COL3A1
Specificity
7 %
Genes
5 %
Aortic valve disease type 1.

By Centogene AG - the Rare Disease Company in Germany.

NOTCH1
Specificity
100 %
Genes
5 %
Myeloid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
5 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
5 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

SMAD2, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL5A2, COL5A1, FBN1, COL3A1
Specificity
7 %
Genes
5 %
NOTCH1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

NOTCH1
Specificity
100 %
Genes
5 %
HAD panel 2.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ADAMTS10, PRKG1, EFEMP2, SLC2A10, FBN2, MYLK, NOTCH1, FLNA, ELN
Specificity
12 %
Genes
5 %
Left Ventricular Outflow Tract Obstruction (LVOTO).

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

NOTCH1
Specificity
100 %
Genes
5 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

PRKG1, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, FBN1, ELN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, FBN1, ELN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PLOD1, COL5A1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, COL5A1, FBN1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
5 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
5 %
NOTCH1.

By Fulgent Genetics Fulgent Genetics in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Adams-Oliver Syndrome Panel.

By Blueprint Genetics in Finland.

DLL4, KCTD1, EOGT, RBPJ, DOCK6, ARHGAP31, UBR1, NOTCH1
Specificity
13 %
Genes
5 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

DLL4, BHLHA9, EOGT, TBX3, GDF5, RBPJ, DOCK6, ARHGAP31, SF3B4, WNT7A, ESCO2, RBM8A, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
5 %
NOTCH1 Mutation Analysis.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

NOTCH1
Specificity
100 %
Genes
5 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, NPM1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
Focus::Myeloid™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

CBLC, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ABL1, JAK2, NPM1, FLT3, GNAS, CALR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
5 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
5 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
5 %
Bicuspid aortic valve.

By Bioarray in Spain.

NOTCH1
Specificity
100 %
Genes
5 %
Hematopoietic Disorders Gene Set.

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

TSLP, FGFR4, TET1, BIRC3, PDGFRB, NOTCH2, IL7R, CSF3R, ETV6, FBXW7, IDH1, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
5 %
CNS Tumor Gene Set.

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

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
5 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
5 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
5 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
5 %
Circulo Hematological.

By Circulogene Theranostics in United States.

NOTCH1
Specificity
100 %
Genes
5 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
5 %
Aortic Valve Disease , Sequencing NOTCH1 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH1
Specificity
100 %
Genes
5 %
Adams-Oliver Type 5 Syndrome, Sequencing NOTCH1 Gene.

By Reference Laboratory Genetics in Spain.

NOTCH1
Specificity
100 %
Genes
5 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
5 %
Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes.

By Reference Laboratory Genetics in Spain.

DOCK6, ARHGAP31, NOTCH1
Specificity
34 %
Genes
5 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

View the complete list with 9 more genes
Specificity
4 %
Genes
5 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
5 %
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MYC, IDH1, MYD88, PDGFRA, TET2, ABL1, JAK2, NPM1, FLT3, ASXL1, KIT, KMT2A, DNMT3A, NOTCH1, NF1, MPL, CEBPA, ALK, PTPN11, BRAF , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
5 %
NGS Epilepsy/Seizure Panel.

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

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
5 %
Comprehensive Brain Malformation Panel.

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

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
5 %
Holoprosencephaly.

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

DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
5 %
Heterotaxy V1 Panel.

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

CFC1, ZIC3, FOXH1, NODAL
Specificity
25 %
Genes
5 %
FOXH1 Sequencing.

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

FOXH1
Specificity
100 %
Genes
5 %
Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion/Duplication, 11 Genes.

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

TDGF1, DISP1, GLI2, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
10 %
Genes
5 %
FOXH1. Complete sequencing.

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

FOXH1
Specificity
100 %
Genes
5 %
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TDGF1, DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
5 %
Ventricular Septal Defects, Tetralogy of Fallot via the FOXH1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FOXH1
Specificity
100 %
Genes
5 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
5 %
Holoprosencephaly.

By MGZ Medical Genetics Center in Germany.

TDGF1, DISP1, GLI2, CDON, FOXH1, NODAL, FGF8, PTCH1
Specificity
13 %
Genes
5 %
HOLOPROSENCEPHALY.

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

TDGF1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1
Specificity
9 %
Genes
5 %
Heterotaxy.

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

CFC1, ZIC3, FOXH1, NODAL
Specificity
25 %
Genes
5 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
5 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HYLS1, NEK1, DYNC2H1, B9D2, EVC2, EVC, ARL13B, GLIS2, IFT80, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TTC21B, ZIC3, B9D1, SDCCAG8, WDPCP , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
5 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

GLI3, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
9 %
Genes
5 %
Holoprosencephaly.

By Bioarray in Spain.

FOXH1
Specificity
100 %
Genes
5 %
Holoprosencephaly: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TDGF1, DISP1, GAS1, DLL1, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
8 %
Genes
5 %
HAND2.

By Fulgent Genetics Fulgent Genetics in United States.

HAND2
Specificity
100 %
Genes
5 %

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