JAG1 gene related symptoms and diseases
All the information presented here about the JAG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to JAG1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ventricular septal defect | Common - Between 50% and 80% cases |
| Pulmonic stenosis | Common - Between 50% and 80% cases |
| Growth delay | Uncommon - Between 30% and 50% cases |
| Abnormal heart morphology | Uncommon - Between 30% and 50% cases |
| Posterior embryotoxon | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with JAG1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Heart murmur
- Peripheral pulmonary artery stenosis
- Hearing impairment
- Broad forehead
- Clinodactyly of the 5th finger
- Tetralogy of Fallot
- Cryptorchidism
- Clinodactyly
And 166 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to JAG1 gene
Here you will find a list of rare diseases related to the JAG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TETRALOGY OF FALLOT
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.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
ALAGILLE SYNDROME 1; ALGS1
Alternate names
ALAGILLE SYNDROME 1; ALGS1 Is also known as algs, alagille-watson syndrome, alagille syndrome, hepatic ductular hypoplasia, syndromatic, arteriohepatic dysplasia, aws, cholestasis with peripheral pulmonary stenosis, ahd
Description
Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome.
Most common symptoms of ALAGILLE SYNDROME 1; ALGS1
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Growth delay
More info about ALAGILLE SYNDROME 1; ALGS1
DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE
Most common symptoms of DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE
- Hearing impairment
- Ventricular septal defect
- Abnormal heart morphology
- Pulmonic stenosis
- Posterior embryotoxon
More info about DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE
ALAGILLE SYNDROME DUE TO 20P12 MICRODELETION
Alternate names
ALAGILLE SYNDROME DUE TO 20P12 MICRODELETION Is also known as alagille syndrome due to del(20)(p12), alagille-watson syndrome due to monosomy 20p12, arteriohepatic dysplasia due to monosomy 20p12, syndromic bile duct paucity due to monosomy 20p12, alagille syndrome due to monosomy 20p12
More info about ALAGILLE SYNDROME DUE TO 20P12 MICRODELETION
SOURCES: ORPHANET
ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION
Alternate names
ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION Is also known as syndromic bile duct paucity due to a jag1 point mutation, alagille-watson syndrome due to a jag1 point mutation, arteriohepatic dysplasia due to a jag1 point mutation
More info about ALAGILLE SYNDROME DUE TO A JAG1 POINT MUTATION
SOURCES: ORPHANET
Search interest in JAG1
Potential gene panels for JAG1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
JAG1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the JAG1 gene.
More info about this panel United States.
JAG1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the JAG1 gene.
More info about this panel United States.
JAG1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the JAG1 gene.
More info about this panel United States.
JAG1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the JAG1 gene.
More info about this panel United States.
PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
United States.
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panel United States.
Cholestasis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cholestasis that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB4 JAG1
More info about this panel United States.
JAG1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the JAG1 gene.
More info about this panel United States.
JAG1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the JAG1 gene.
More info about this panel United States.
Liver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel United States.
Jaundice Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Jaundice Deletion/duplication panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1
More info about this panel United States.
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Jaundice Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Jaundice Panel by next-generation sequencing (NGS) that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
CardioNext with TTN Panel
United States.
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
Alagille Syndrome Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the JAG1 gene.
More info about this panel Switzerland.
JAG1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the JAG1 gene.
More info about this panel Spain.
JAG1. Sequencing of the exons 1-6, 9, 12, 17, 20, 23 and 24 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the JAG1 gene.
More info about this panel Spain.
JAG1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille Syndrome - JAG1 Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the JAG1 gene.
More info about this panel United States.
Alagille Syndrome - JAG1 Deletion/Duplication Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the JAG1 gene.
More info about this panel United States.
Alagille Syndrome - JAG1 Sequence and Deletion/Duplication Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the JAG1 gene.
More info about this panel United States.
Alagille Syndrome - JAG1 Known Point Mutation Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the JAG1 gene.
More info about this panel United States.
Neonatal Respiratory Distress Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq Analysis that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Cholestasis Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Alagille Syndrome Del/Dup Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alagille Syndrome Del/Dup that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
Alagille Syndrome Seq + Del/Dup Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alagille Syndrome Seq + Del/Dup that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Cholestasis Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Alagille Syndrome Seq Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alagille Syndrome Seq that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Alagille Syndrome (deletion/duplication analysis of JAG1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the JAG1 gene.
More info about this panel Portugal.
Alagille Syndrome (sequence analysis of JAG1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the JAG1 gene.
More info about this panel Portugal.
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1
More info about this panel Portugal.
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel
Portugal.
By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1
More info about this panel Portugal.
JAG1-Related Alagille Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the JAG1 gene.
More info about this panel United Kingdom.
Alagille Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory Alagille Syndrome that also includes the following genes: JAG1 NOTCH2
More info about this panel United Kingdom.
Cholestasis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4
More info about this panel United States.
Alagille Syndrome-1 via JAG1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the JAG1 gene.
More info about this panel United States.
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 JAG1 NOTCH2
More info about this panel United States.
Alagille Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Alagille Syndrome Sequencing Panel with CNV Detection that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Alagille syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Alagille syndrome NGS panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panel United States.
Alagille syndrome Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Alagille syndrome Deletion/ Duplication panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panel United States.
Alagille syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Alagille syndrome Comprehensive panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panel United States.
Congenital heart disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Alagille syndrome 1 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the JAG1 gene.
More info about this panel United States.
Alagille syndrome 1 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the JAG1 gene.
More info about this panel United States.
Alagille syndrome 1 NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the JAG1 gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
JAG1-Related Alagille Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the JAG1 gene.
More info about this panel Germany.
Congenital heart defects panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panel Netherlands.
Alagille syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the JAG1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Congenital Heart Defects Panel Panel
Germany.
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panel Germany.
Single gene testing JAG1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the JAG1 gene.
More info about this panel Germany.
Alagille syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Alagille syndrome that also includes the following genes: JAG1 NOTCH2
More info about this panel Poland.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Alagille syndrome, JAG1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the JAG1 gene.
More info about this panel United States.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Congenital Heart Diseases Panel Panel
Spain.
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Alagille syndrome (JAG1) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the JAG1 gene.
More info about this panel Belgium.
Alagille syndrome 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the JAG1 gene.
More info about this panel Austria.
Tetralogy of Fallot Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the JAG1 gene.
More info about this panel Austria.
JAG1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the JAG1 gene.
More info about this panel Austria.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Alagille syndrome 1 Panel
Slovakia.
By MedGene
This panel specifically test the JAG1 gene.
More info about this panel Slovakia.
Tetralogy of Fallot Panel
Slovakia.
By MedGene
This panel specifically test the JAG1 gene.
More info about this panel Slovakia.
Invitae Alagille Syndrome Panel Panel
United States.
By Invitae Invitae Alagille Syndrome Panel that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
Alagille syndrome: JAG1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille syndrome: JAG1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille syndrome: JAG1 gene sequence analysis (exons 1-6, 9, 12, 17, 20, 23-24) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Pan-Cardio NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
Cholestasis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cholestasis NGS Panel that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB11 ABCB4 JAG1 SERPINA1
More info about this panel United States.
Alagille Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Alagille Syndrome NGS Panel that also includes the following genes: JAG1 NOTCH2
More info about this panel United States.
JAG1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the JAG1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
Polycystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Polycystic Kidney Disease Panel that also includes the following genes: SEC63 DZIP1L GANAB JAG1 LRP5 NOTCH2 PKD1 PKD2 PKHD1 PRKCSH
More info about this panel Finland.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Alagille syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille Syndrome NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Alagille Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: ATP8B1 JAG1 NOTCH2
More info about this panel United States.
JAG1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the JAG1 gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
ALAGILLE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL ALAGILLE SYNDROME that also includes the following genes: JAG1 NOTCH2
More info about this panel Spain.
TETRALOGY OF FALLOT Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille syndrome type 1 Panel
Canada.
By LifeLabs Genetics
This panel specifically test the JAG1 gene.
More info about this panel Canada.
Alagille Syndrome, Sequencing JAG1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille Syndrome Type 1 , Sequencing Rest Exons JAG1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille Syndrome, Sequencing Exons (1-6, 9, 12, 17, 20, 23, 24) JAG1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the JAG1 gene.
More info about this panel Spain.
Alagille Syndrome Types 1 and 2 , Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes Panel
Spain.
By Reference Laboratory Genetics Alagille Syndrome Types 1 and 2 , Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes that also includes the following genes: JAG1 NOTCH2
More info about this panel Spain.
Alagille syndrome 1 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the JAG1 gene.
More info about this panel Germany.
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