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.

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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

SOURCES: ORPHANET OMIM

ACROOSTEOLYSIS


Most common symptoms of ACROOSTEOLYSIS

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


More info about ACROOSTEOLYSIS

SOURCES: OMIM MESH

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

SOURCES: ORPHANET OMIM


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

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

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

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

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

Alagille Syndrome type 2 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the NOTCH2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hajdu-Cheney Syndrome Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille Syndrome Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the NOTCH2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Alagille syndrome 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome 2 Panel

Slovakia.

By MedGene

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

Slovakia.

By MedGene

This panel specifically test the NOTCH2 gene.

More info about this panel

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

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

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

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

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

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

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

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

NOTCH2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NOTCH2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Alagille syndrome Panel

Spain.

By Bioarray

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

Spain.

By Bioarray

This panel specifically test the NOTCH2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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