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: NCBIGENE,HGNC,OMIM,ORPHANET.

Top 5 symptoms associated to NOTCH2 gene



Symptoms // Phenotype % Cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Osteopenia Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with NOTCH2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Hydrocephalus Long philtrum Abnormality of the dentition Inguinal hernia Hypospadias Patent ductus arteriosus Hernia Osteoporosis

And 142 more phenotypes.

Mendelian

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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

Most common symptoms of ACROOSTEOLYSIS

  • Autosomal dominant inheritance
  • Juvenile onset
  • Osteolytic defects of the phalanges of the hand
  • Osteolytic defects of the phalanges of the toes


More info about ACROOSTEOLYSIS

SOURCES: GARD NCIT DOID OMIM MONDO MESH

ALAGILLE SYNDROME 2; ALGS2

Alternate names

ALAGILLE SYNDROME 2; ALGS2 Is also known as ;alagille-watson syndrome due to a notch2 point mutation; arteriohepatic dysplasia due to a notch2 point mutation; syndromic bile duct paucity due to a notch2 point mutation

Most common symptoms of ALAGILLE SYNDROME 2; ALGS2

  • Autosomal dominant inheritance
  • Hypertension
  • Atrial septal defect
  • Renal insufficiency
  • Acidosis


More info about ALAGILLE SYNDROME 2; ALGS2

SOURCES: UMLS MONDO ORPHANET OMIM

ACROOSTEOLYSIS DOMINANT TYPE

Alternate names

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia; acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; cheney syndrome; hajdu-cheney syndrome

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
  • Micrognathia


More info about ACROOSTEOLYSIS DOMINANT TYPE

SOURCES: ORPHANET SCTID

HAJDU-CHENEY SYNDROME; HJCYS

Alternate names

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible, cheney syndrome, arthrodentoosteodysplasia, serpentine fibula-polycystic kidney syndrome;sfpks

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

  • Autosomal dominant inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Growth delay


More info about HAJDU-CHENEY SYNDROME; HJCYS

SOURCES: ORPHANET OMIM

Potential gene panels for NOTCH2 gene

Cholestasis Panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. Cholestasis Panel by next-generation sequencing (NGS) that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 CYP7B1 TJP2 AKR1D1 VPS33B

More info about this panel

NOTCH2 Sequencing Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Renal Cystic Disorders Sequencing Panel that also includes the following genes: VHL INVS HNF1B INPP5E CC2D2A JAG1 TMEM67 ARL6 NPHP3 NPHP1

More info about this panel

Alagille Syndrome type 2 Panel

By Human Genetics University Hospital Bern in Switzerland.

This panel specifically test the NOTCH2 gene.

More info about this panel

NOTCH2. Complete sequencing Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

NOTCH2. Sequencing of the exons 34 Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

NOTCH2. Complete sequencing Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

Neonatal Respiratory Distress Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

More info about this panel

Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

More info about this panel

Neonatal Respiratory Distress Seq Analysis Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Neonatal Respiratory Distress Seq Analysis that also includes the following genes: JAG1 FOXF1 GATA2 SLC7A7 FLNA DKC1 MARS TERC TERT CSF2RA

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Cholestasis Seq + Del/Dup Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 CFTR LIPA NPC1 NPC2 SERPINA1

More info about this panel

Alagille Syndrome Del/Dup Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Alagille Syndrome Del/Dup that also includes the following genes: JAG1 NOTCH2

More info about this panel

Alagille Syndrome Seq + Del/Dup Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Alagille Syndrome Seq + Del/Dup that also includes the following genes: JAG1 NOTCH2

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Cholestasis Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Cholestasis Del/Dup Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 CFTR LIPA NPC1 NPC2 SERPINA1

More info about this panel

Alagille Syndrome Seq Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Alagille Syndrome Seq that also includes the following genes: JAG1 NOTCH2

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: INVS JAG1 RPGR CCDC39 CFTR FOXF1 SMAD4 GATA2 ENG SLC7A7

More info about this panel

Alagille syndrome 2 (sequence analysis of NOTCH2 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille Syndrome Panel

By Exeter Molecular Genetics Laboratory in United Kingdom. Alagille Syndrome that also includes the following genes: JAG1 NOTCH2

More info about this panel

Hajdu-Cheney Syndrome Panel

By Exeter Molecular Genetics Laboratory in United Kingdom.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille Syndrome Panel

By Exeter Molecular Genetics Laboratory in United Kingdom.

This panel specifically test the NOTCH2 gene.

More info about this panel

Cholestasis Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 SLC25A13 SERPINA1 TJP2 AKR1D1 VPS33B VIPAS39

More info about this panel

NOTCH2-Related Disorders via the NOTCH2 Gene Panel

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States. Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel with CNV Detection that also includes the following genes: ABCB11 ABCB4 ATP8B1 JAG1 TJP2 NOTCH2

More info about this panel

Alagille Syndrome Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. 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

By PreventionGenetics PreventionGenetics in United States. Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: VHL INVS LRP5 HNF1B JAG1 TMEM67 NPHP3 NPHP1 CEP290 NPHP4

More info about this panel

Alagille syndrome NGS panel Panel

By Connective Tissue Gene Tests in United States. Alagille syndrome NGS panel that also includes the following genes: ATP8B1 JAG1 NOTCH2

More info about this panel

Alagille syndrome Deletion/ Duplication panel Panel

By Connective Tissue Gene Tests in United States. Alagille syndrome Deletion/ Duplication panel that also includes the following genes: ATP8B1 JAG1 NOTCH2

More info about this panel

Alagille syndrome Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. 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

By Connective Tissue Gene Tests in United States. Congenital heart disease Deletion / Duplication panel that also includes the following genes: ELN JAG1 CHD7 TBX1 NOTCH1 NKX2-5 TBX5 GDF1 GATA4 GATA6

More info about this panel

Congenital heart disease Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Congenital heart disease Comprehensive panel that also includes the following genes: ELN JAG1 CHD7 TBX1 NOTCH1 NKX2-5 TBX5 GDF1 GATA4 GATA6

More info about this panel

Congenital heart disease NGS panel Panel

By Connective Tissue Gene Tests in United States. Congenital heart disease NGS panel that also includes the following genes: ELN JAG1 CHD7 TBX1 NOTCH1 NKX2-5 TBX5 GDF1 GATA4 GATA6

More info about this panel

Polycystic kidney disease and related disorders NGS panel Panel

By Connective Tissue Gene Tests in United States. Polycystic kidney disease and related disorders NGS panel that also includes the following genes: INVS LRP5 HNF1B NPHP3 ALG9 TSC2 TSC1 PKHD1 UMOD PKD2

More info about this panel

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: INVS LRP5 HNF1B NPHP3 ALG9 TSC2 TSC1 PKHD1 UMOD PKD2

More info about this panel

Polycystic kidney disease and related disorders Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: INVS LRP5 HNF1B NPHP3 ALG9 TSC2 TSC1 PKHD1 UMOD PKD2

More info about this panel

Alagille syndrome 2 NGS test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Deletion / Duplication test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome NGS test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Comprehensive test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome 2 Deletion / Duplication test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome 2 Comprehensive test Panel

By Connective Tissue Gene Tests in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Hereditary kidney disorders - different panels that also includes the following genes: VHL ACAT1 ARG1 ATP7B AUH BCS1L INVS HNF1A MMACHC EYA1

More info about this panel

Heart Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Heart Diseases - panels that also includes the following genes: TTR AARS2 ACAD9 ACADM ACADS AGL ACADVL GAA ELN CPT2

More info about this panel

Pulmonary diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Pulmonary diseases - panels that also includes the following genes: ELN SARS2 CFTR ENG NOTCH3 CAV3 COL4A1 NOTCH1 ACVRL1 BMPR1B

More info about this panel

Hepatic and pancreatic diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Hepatic and pancreatic diseases - panels that also includes the following genes: HFE ABCB11 ABCB4 ATP7B ATP8B1 INVS HNF1B TRMU CC2D2A JAG1

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

By MGZ Medical Genetics Center in Germany. Mental Retardation and Dysmorphology - panels that also includes the following genes: FMR1 UBE3A PTEN RECQL4 AGL ATP7A GAA LRP5 SLC37A4 GNPTAB

More info about this panel

Syndromal Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Syndromal Diseases - panels that also includes the following genes: FMR1 UBE3A PTEN RECQL4 AGL ATP7A GAA LRP5 SLC37A4 GNPTAB

More info about this panel

NOTCH2-Related Alagille Syndrome Panel

By Bioscientia GmbH Center for Human Genetics in Germany.

This panel specifically test the NOTCH2 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

Polycystic kidney panel Panel

By Centogene AG - the Rare Disease Company in Germany. Polycystic kidney panel that also includes the following genes: PKHD1 PKD2 PKD1 NOTCH2 BICC1

More info about this panel

Congenital Heart Defects Panel Panel

By CeGaT GmbH in Germany. Congenital Heart Defects Panel that also includes the following genes: ELN FOXC1 PITX2 JAG1 CHD7 MYH7 FLNA TBX1 SEMA3E RBM10

More info about this panel

Alagille syndrome Panel

By Laboratory of Human Genetics GENOMED Health Care Center in Poland. Alagille syndrome that also includes the following genes: JAG1 NOTCH2

More info about this panel

Cardiovascular Diseases_General Panel Panel

By Health in Code in Spain. Cardiovascular Diseases_General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATP7A ATPAF2 B4GALT7

More info about this panel

Congenital heart diseases Panel Panel

By Health in Code in Spain. Congenital heart diseases Panel that also includes the following genes: ELN EYA4 FOXC1 PITX2 JAG1 NPHP4 RAF1 BRAF CHD7 CREBBP

More info about this panel

Alagille syndrome 2 Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome 2 Panel

By MedGene in Slovakia.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

By MedGene in Slovakia.

This panel specifically test the NOTCH2 gene.

More info about this panel

Invitae Alagille Syndrome Panel Panel

By Invitae in United States. 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

By Invitae in United States. Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: INVS ELN JAG1 NPHP3 CEP290 TTC8 RAF1 RPGR CCDC39 BCOR

More info about this panel

Alagille syndrome: NOTCH2 gene sequence analysis Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: ALPL ANKH TYROBP FKBP10 B4GALT7 IFITM5 LRP5 COL1A1 COL1A2 TNFRSF11A

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: ABCB11 ABCB4 ATP8B1 INVS HNF1B TRMU CC2D2A JAG1 NPHP3 NPHP1

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Skeletal Dysplasia: Sequencing Panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 IFITM5 LRP5 COL2A1 COL1A1

More info about this panel

Alagille Syndrome NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Alagille Syndrome NGS Panel that also includes the following genes: JAG1 NOTCH2

More info about this panel

Skeletal Dysplasias NGS panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Skeletal Dysplasias NGS panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 IFITM5 LRP5 COL2A1 COL1A1

More info about this panel

NOTCH2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the NOTCH2 gene.

More info about this panel

KidneySeq - 264 Genes Panel

By Iowa Institute of Human Genetics University of Iowa in United States. KidneySeq - 264 Genes that also includes the following genes: TTR VHL ATP7B INVS EYA1 SLC34A1 WT1 HNF1B RET INPP5E

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

By Blueprint Genetics in Finland. Comprehensive Short Stature Syndrome Panel that also includes the following genes: BCS1L PITX2 OTX2 RAF1 SOX2 HESX1 FGFR3 BRAF CREBBP DHCR7

More info about this panel

Cystic Kidney Disease Panel Panel

By Blueprint Genetics in Finland. Cystic Kidney Disease Panel that also includes the following genes: VHL INVS EYA1 LRP5 HNF1B JAG1 TMEM67 NPHP3 NPHP1 CEP290

More info about this panel

Cholestasis Panel Panel

By Blueprint Genetics in Finland. Cholestasis Panel that also includes the following genes: EPCAM ABCB11 ABCB4 ATP8B1 TRMU JAG1 NPHP3 NPHP1 NPHP4 SLC25A13

More info about this panel

Polycystic Kidney Disease Panel Panel

By Blueprint Genetics in Finland. Polycystic Kidney Disease Panel that also includes the following genes: LRP5 JAG1 PKHD1 PKD2 PKD1 PRKCSH NOTCH2 SEC63 DZIP1L GANAB

More info about this panel

Congenital Structural Heart Disease Panel Panel

By Blueprint Genetics in Finland. Congenital Structural Heart Disease Panel that also includes the following genes: ELN PITX2 JAG1 BCOR CHD7 DHCR7 HRAS SOS2 CBL NSD1

More info about this panel

3-M Syndrome / Primordial Dwarfism Panel Panel

By Blueprint Genetics in Finland. 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L CENPJ CEP152 PCNT ATR TRIM37 RBBP8 NOTCH2 SRCAP RTTN

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

By Blueprint Genetics in Finland. Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 LRP5 COL2A1 COL1A1 COL1A2

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

By Blueprint Genetics in Finland. Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RECQL4 ALPL ANKH TYROBP FKBP10 B4GALT7 BCS1L IFITM5 LRP5 COL2A1

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. Focus::Lymphoma™ NGS Panel that also includes the following genes: PTEN TP53 STAT3 BRAF CREBBP KRAS ATM CDKN2A BTK KMT2D

More info about this panel

Alagille syndrome Panel

By Bioarray in Spain.

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille syndrome type 2 Panel

By Bioarray in Spain.

This panel specifically test the NOTCH2 gene.

More info about this panel

Hajdu-Cheney syndrome Panel

By Bioarray in Spain.

This panel specifically test the NOTCH2 gene.

More info about this panel

Solid Tumor Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis in United States. Solid Tumor Gene Set that also includes the following genes: BRCA1 BRCA2 VHL APC MLH1 PTEN TP53 FOXL2 PPARG WT1

More info about this panel

Hematopoietic Disorders Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis in United States. Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 TP53 IDH2 BCOR BRAF CREBBP KRAS NRAS PTPN11 CBL

More info about this panel

Head & Neck Tumors Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis in United States. Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 APC PTEN TP53 RB1 HRAS KRAS NRAS NSD1

More info about this panel

NOTCH2 Gene Sequencing and Deletion/Duplication Analysis Panel

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

This panel specifically test the NOTCH2 gene.

More info about this panel

Alagille Syndrome NGS and Deletion/Duplication Panel Panel

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

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: HFE ABCB11 ABCB4 ATP7B ATP8B1 BCS1L TWNK INVS HBB HNF1B

More info about this panel

FoundationOne® Heme Panel

By Foundation Medicine, Inc. in United States. FoundationOne® Heme that also includes the following genes: BRCA1 BRCA2 VHL APC MSH2 MSH6 MLH1 MUTYH PTEN RUNX1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BRCA1 BRCA2 VHL APC MSH2 PMS2 MSH6 MLH1 MUTYH PTEN

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

By Caris Life Sciences in United States. Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BRCA1 BRCA2 VHL APC MSH2 PMS2 MSH6 MLH1 MUTYH PTEN

More info about this panel

ALAGILLE SYNDROME Panel

By Laboratorio de Genetica Clinica SL in Spain. ALAGILLE SYNDROME that also includes the following genes: JAG1 NOTCH2

More info about this panel

Alagille Syndrome Type 2, Sequencing NOTCH2 Gene Panel

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain. 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

By Integrated Molecular Diagnostics Pathology, Inc. in United States. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: BRCA1 BRCA2 MTHFR VHL APC MLH1 PTEN TP53 RB1 RET

More info about this panel

Tempus xT assay Panel

By Tempus Labs, Inc. in United States. Tempus xT assay that also includes the following genes: BRCA1 BRCA2 MTHFR VHL APC EPCAM MSH2 PMS2 MSH6 MLH1

More info about this panel

Tempus xO assay Panel

By Tempus Labs, Inc. in United States. Tempus xO assay that also includes the following genes: BRCA1 BRCA2 VHL APC EPCAM MSH2 PMS2 MSH6 MLH1 MUTYH

More info about this panel


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