NOTCH2 gene related symptoms and diseases
All the information presented here about the NOTCH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NOTCH2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Patent ductus arteriosus | Very Common - Between 80% and 100% cases |
| Hypertelorism | Very Common - Between 80% and 100% cases |
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Short stature | Common - Between 50% and 80% cases |
| Synophrys | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NOTCH2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Inguinal hernia
- Osteolysis
- Narrow mouth
- Osteopenia
- Skeletal dysplasia
- Coarse facial features
- Umbilical hernia
- Telecanthus
And 175 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NOTCH2 gene
Here you will find a list of rare diseases related to the NOTCH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACROOSTEOLYSIS DOMINANT TYPE
Alternate names
ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia, acroosteolysis with osteoporosis and changes in skull and mandible, cheney syndrome, hajdu-cheney syndrome, arthrodentoosteodysplasia
Description
Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
Most common symptoms of ACROOSTEOLYSIS DOMINANT TYPE
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Failure to thrive
More info about ACROOSTEOLYSIS DOMINANT TYPE
SOURCES: ORPHANET
HAJDU-CHENEY SYNDROME; HJCYS
Alternate names
HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible, sfpks, cheney syndrome, arthrodentoosteodysplasia, serpentine fibula-polycystic kidney syndrome
Description
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).
Most common symptoms of HAJDU-CHENEY SYNDROME; HJCYS
- Short stature
- Hearing impairment
- Growth delay
- Hypertelorism
- Failure to thrive
More info about HAJDU-CHENEY SYNDROME; HJCYS
ACROOSTEOLYSIS
Most common symptoms of ACROOSTEOLYSIS
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Failure to thrive
More info about ACROOSTEOLYSIS
ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
Alternate names
ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation, arteriohepatic dysplasia due to a notch2 point mutation, alagille-watson syndrome due to a notch2 point mutation
Most common symptoms of ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
- Hypertelorism
- Failure to thrive
- Cognitive impairment
- Hypertension
- Hepatomegaly
More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION
Search interest in NOTCH2
Potential gene panels for NOTCH2 gene
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.
NOTCH2 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 NOTCH2 gene.
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.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel United States.
Alagille Syndrome type 2 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the NOTCH2 gene.
More info about this panel Switzerland.
NOTCH2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
NOTCH2. Sequencing of the exons 34 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
NOTCH2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
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 2 (sequence analysis of NOTCH2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NOTCH2 gene.
More info about this panel Portugal.
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.
Hajdu-Cheney Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the NOTCH2 gene.
More info about this panel United Kingdom.
Alagille Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the NOTCH2 gene.
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.
NOTCH2-Related Disorders via NOTCH2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NOTCH2 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.
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.
Polycystic kidney disease and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Polycystic kidney disease and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1
More info about this panel United States.
Alagille syndrome 2 NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 gene.
More info about this panel United States.
Hajdu-Cheney syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 gene.
More info about this panel United States.
Hajdu-Cheney syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 gene.
More info about this panel United States.
Hajdu-Cheney syndrome Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 gene.
More info about this panel United States.
Alagille syndrome 2 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 gene.
More info about this panel United States.
Alagille syndrome 2 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the NOTCH2 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.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
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.
NOTCH2-Related Alagille Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the NOTCH2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
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.
Polycystic kidney panel Panel
Germany.
By Centogene AG - the Rare Disease Company Polycystic kidney panel that also includes the following genes: BICC1 NOTCH2 PKD1 PKD2 PKHD1
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.
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.
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.
Alagille syndrome 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOTCH2 gene.
More info about this panel Austria.
Hajdu-Cheney syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOTCH2 gene.
More info about this panel Austria.
Alagille syndrome 2 Panel
Slovakia.
By MedGene
This panel specifically test the NOTCH2 gene.
More info about this panel Slovakia.
Hajdu-Cheney syndrome Panel
Slovakia.
By MedGene
This panel specifically test the NOTCH2 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.
Alagille syndrome: NOTCH2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
More info about this panel United States.
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.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
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.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
NOTCH2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NOTCH2 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.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
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.
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.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Focus::Lymphoma™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panel United States.
Alagille syndrome Panel
Spain.
By Bioarray
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
Alagille syndrome type 2 Panel
Spain.
By Bioarray
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
Hajdu-Cheney syndrome Panel
Spain.
By Bioarray
This panel specifically test the NOTCH2 gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
Hematopoietic Disorders Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panel United States.
Head & Neck Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A
More info about this panel United States.
NOTCH2 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 NOTCH2 gene.
More info about this panel United States.
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.
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.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
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.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Alagille Syndrome Type 2, Sequencing NOTCH2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NOTCH2 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.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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