ARHGEF9 gene related symptoms and diseases
All the information presented here about the ARHGEF9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARHGEF9 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Lack of spontaneous play | Uncommon - Between 30% and 50% cases |
Restrictive behavior | Uncommon - Between 30% and 50% cases |
Inflexible adherence to routines or rituals | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARHGEF9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Impaired use of nonverbal behaviors
- Increased serum serotonin
- Stereotypy
- Autistic behavior
- EEG abnormality
- Autism
- Delayed speech and language development
- Atrial septal defect
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARHGEF9 gene
Here you will find a list of rare diseases related to the ARHGEF9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPEREKPLEXIA-EPILEPSY SYNDROME
Alternate names
HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy
Description
Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.
Most common symptoms of HYPEREKPLEXIA-EPILEPSY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Intellectual disability, severe
- Hypertonia
More info about HYPEREKPLEXIA-EPILEPSY SYNDROME
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
Description
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.
Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
- Intellectual disability
- Seizures
- Delayed speech and language development
- Atrial septal defect
- Autism
More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
Search interest in ARHGEF9
Potential gene panels for ARHGEF9 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
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By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
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By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel![](/img/flags/United-states.png)
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
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By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel![](/img/flags/United-states.png)
NGS XLID Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
NGS Epilepsy/Seizure Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Epilepsy/Seizure Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel![](/img/flags/United-states.png)
X-Linked Intellectual Disabilities Deletion/Duplication Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disabilities Sequencing Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
ARHGEF9 sequencing Panel
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By Genetic Services Laboratory University of Chicago
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
Non-Specific Intellectual Disability Panel Panel
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By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel![](/img/flags/United-states.png)
Early Infantile Epileptic Encephalopathy Panel Panel
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By Genetic Services Laboratory University of Chicago Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel![](/img/flags/United-states.png)
X-linked Non-Specific Intellectual Disability Panel Panel
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By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
ARHGEF9 gene sequence and deletion/duplication Panel
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By Ambry Genetics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
CustomNext: Neuro Panel
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By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
Neurodevelopment-Expanded Panel
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By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel![](/img/flags/United-states.png)
EpilepsyNext Panel
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By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel![](/img/flags/United-states.png)
EpiRapid reflex EpilepsyNext Panel
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By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel![](/img/flags/United-states.png)
IDNext Panel
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By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel![](/img/flags/United-states.png)
CHOP Epilepsy Panel Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panel![](/img/flags/United-states.png)
Epileptic encephalopathy, early infantile type 8 (sequence analysis of ARHGEF9 gene) Panel
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By CGC Genetics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel
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By CGC Genetics Early infantile epileptic encephalopathy (NGS panel for 26 genes) that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SPTAN1 CDKL5 STXBP1 WWOX PCDH19 ARHGEF9
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Epileptic encephalopathy (NGS panel for 67 genes) Panel
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By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Mental retardation, X-linked (NGS panel for 89 genes) Panel
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By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hyperekplexia (NGS panel for 7 genes) Panel
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By CGC Genetics Hyperekplexia (NGS panel for 7 genes) that also includes the following genes: SLC6A5 ARHGEF9 GPHN FKTN GLRA1 GLRB ASNS
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel![](/img/flags/United-states.png)
Epilepsy: Early Infantile Epileptic Encephalopathy via ARHGEF9 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel![](/img/flags/United-states.png)
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
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By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mental Retardation and Dysmorphology - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epileptic Encephalopathy Panel
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By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
X-Linked Mental Retardation Panel
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By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy and Mitochondrial Encephalopathy Panel
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By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hyperekplexia Panel
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By MGZ Medical Genetics Center Hyperekplexia that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy Panel
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By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
ARHGEF9 Panel
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By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Epileptic encephalopathy panel Panel
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By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Hyperekplexia panel Panel
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By Centogene AG - the Rare Disease Company Hyperekplexia panel that also includes the following genes: SLC6A2 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epileptic encephalopathy, early infantile type 8 Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epileptic Encephalopathy Panel Panel
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By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy and X-linked Mental Retardation with Seizures Panel Panel
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By CeGaT GmbH Epilepsy and X-linked Mental Retardation with Seizures Panel that also includes the following genes: SLC9A6 KDM5C SMS CDKL5 SYN1 SYP MED12 UBE2A PCDH19 ARHGEF9
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hyperekplexia Panel Panel
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By CeGaT GmbH Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing ARHGEF9 Panel
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By CeGaT GmbH
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Epilepsy Panel
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By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Invitae Epilepsy Panel Panel
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By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel![](/img/flags/United-states.png)
Invitae Early Infantile Epileptic Encephalopathy Panel Panel
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By Invitae Invitae Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 CDKL5
More info about this panel![](/img/flags/United-states.png)
Invitae Hereditary Hyperekplexia Panel Panel
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By Invitae Invitae Hereditary Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN CLPB GLRA1 GLRB
More info about this panel![](/img/flags/United-states.png)
Invitae Neurotransmitter Disorders Panel Panel
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By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel![](/img/flags/United-states.png)
Epileptic encephalopathies Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epileptic encephalopathies that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SLC2A1 SPTAN1 CDKL5 STXBP1 TREX1 WWOX
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ARHGEF9-Related Hereditary Hyperekplexia: ARHGEF9 Gene Sequencing Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
ARHGEF9-Related Hereditary Hyperekplexia: ARHGEF9 Gene Deletion/Duplication Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
Neurology: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel![](/img/flags/United-states.png)
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel![](/img/flags/United-states.png)
Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel![](/img/flags/United-states.png)
XLID NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel![](/img/flags/United-states.png)
ARHGEF9 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
Essential Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel![](/img/flags/United-states.png)
Idiopathic Generalized Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel![](/img/flags/United-states.png)
Early-Onset Epileptic Encephalopathy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel![](/img/flags/United-states.png)
X-chromosome High Resolution microarray analysis Panel
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By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel![](/img/flags/United-states.png)
X-linked Intellectual Disability Panel Panel
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By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Epileptic Encephalopathy Panel Panel
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By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Epilepsy Panel Panel
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By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hyperekplexia NGS and Deletion/Duplication Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hyperekplexia NGS and Deletion/Duplication Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/United-states.png)
ARHGEF9 Gene Sequencing and Deletion/Duplication Analysis Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/United-states.png)
HYPEREKPLEXIA,- EPILEPSY Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
HYPEREKPLEXIA, HEREDITARY Panel
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By Laboratorio de Genetica Clinica SL HYPEREKPLEXIA, HEREDITARY that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL that also includes the following genes: SCN1A SCN2A SCN8A SPTAN1 CDKL5 STXBP1 PCDH19 ARHGEF9 PLCB1 ARX
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Early Infantile Epileptic Encephalopathy Type 8 , Sequencing ARHGEF9 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the ARHGEF9 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Startle Disease , Panel Massive Sequencing (NGS) 5 Genes Panel
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By Reference Laboratory Genetics Startle Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel
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By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
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By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Hyperekplexia: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene sequencing panel that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Hereditary Hyperekplexia: gene deletion/duplication Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene deletion/duplication that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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