ARX gene related symptoms and diseases
All the information presented here about the ARX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARX gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Seizures | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Lissencephaly | Uncommon - Between 30% and 50% cases |
Infantile spasms | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARX gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spasticity
- Microcephaly
Rarely - Less than 30% cases
- Cognitive impairment
- Generalized hypotonia
- Intellectual disability, severe
- Dystonia
- Hemiplegia
- Neonatal hypotonia
And 175 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARX gene
Here you will find a list of rare diseases related to the ARX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARTINGTON SYNDROME
Alternate names
PARTINGTON SYNDROME Is also known as x-linked intellectual disability-dystonia-dysarthria syndrome, partington-mulley syndrome
Description
Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.
More info about PARTINGTON SYNDROME
SOURCES: ORPHANET
X-LINKED RETICULATE PIGMENTARY DISORDER
Alternate names
X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis, mental retardation, x-linked, with dystonic movements, ataxia, and seizures, pdr, mental retardation, x-linked, syndromic 1, x-linked cutaneous amyloidosis, xlpdr, mrx36, partington syndrome, partington disease, mrxs1, mental retarda
Description
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
Most common symptoms of X-LINKED RETICULATE PIGMENTARY DISORDER
- Intellectual disability
- Seizures
- Global developmental delay
- Hypertelorism
- Abnormal facial shape
More info about X-LINKED RETICULATE PIGMENTARY DISORDER
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
Alternate names
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr
Description
X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).
Most common symptoms of PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
- Intellectual disability
- Seizures
- Global developmental delay
- Failure to thrive
- Visual impairment
More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR
SOURCES: OMIM
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18
Description
Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.'
Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME
Alternate names
CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, acc with abnormal genitalia, acc-abnormal genitalia syndrome, proud-levine-carpenter syndrome
Description
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.
Most common symptoms of CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX
Alternate names
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX Is also known as mrx32, mrx38, mental retardation, x-linked 76, mental retardation, x-linked 38, mental retardation, x-linked 29, mrx54, mrx76, mental retardation, x-linked 32, mrx43, mrx29, mental retardation, x-linked 54, mental retardation, x-linked 33, mrx33, mental retardation, x
Description
ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).
Most common symptoms of MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX
- Intellectual disability
- Seizures
- Generalized hypotonia
- Hearing impairment
- Cognitive impairment
More info about MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX
WEST SYNDROME
Alternate names
WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome, infantile spasm syndrome, x-linked 1, xmesid, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile spasms, infantile epileptic-dyskinetic encephalopathy, issx1
Description
West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
Most common symptoms of WEST SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about WEST SYNDROME
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
Alternate names
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts, ohtahara syndrome, eiee
Description
Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
- Seizures
- Encephalopathy
- Generalized myoclonic seizures
- Focal-onset seizure
- Epileptic encephalopathy
More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
SOURCES: ORPHANET
X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA
Alternate names
X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg, xlag (x-linked lissencephaly with abnormal genitalia) syndrome, lissencephaly, x-linked, with ambiguous genitalia, x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome, xlag, x-linked lissencephaly with ambiguous genitalia
Description
X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.
Most common symptoms of X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA
X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME
Description
This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).
Most common symptoms of X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME
- Intellectual disability
- Spasticity
- Hypertonia
- Rigidity
- Status epilepticus
More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME
SOURCES: ORPHANET
INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY
Description
Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
More info about INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY
SOURCES: ORPHANET
Search interest in ARX
Potential gene panels for ARX gene
ARX Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Deletion/Duplication Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARX gene.
More info about this panelARX Sequencing and CNV Evaluation (Epilepsy) Panel
By Athena Diagnostics Inc
This panel specifically test the ARX gene.
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
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 panelARX Sequencing and CNV Evaluation (Intellectual Disability) Panel
By Athena Diagnostics Inc
This panel specifically test the ARX gene.
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms that also includes the following genes: SCN2A ST3GAL3 SLC35A2 SPTAN1 CDKL5 STXBP1 CACNA2D1 ARX SLC25A22 ADSL
More info about this panelSyndromic Autism Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panelNGS XLID Panel Panel
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 panelRett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Rett-Angelman Syndrome 2nd-Tier Sequencing Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panelNGS Epilepsy/Seizure Panel Panel
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 panelARX-related spectrum Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the ARX gene.
More info about this panelARX Panel
By Center for Human Genetics, Inc
This panel specifically test the ARX gene.
More info about this panelAgenesis of the Corpus Callosum Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Agenesis of the Corpus Callosum that also includes the following genes: SLC12A6 MRPS16 ARX L1CAM
More info about this panelComprehensive Brain Malformation Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panelDystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelEpilepsy/Seizure Panel
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 panelInfantile Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelX-Linked Intellectual Disabilities Deletion/Duplication Panel
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 panelX-linked Intellectual Disabilities Sequencing Panel
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 panelX-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
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 panelARX-Related Disorder Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the ARX gene.
More info about this panelRett/Angelman Syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Rett/Angelman Syndrome Deletion/Duplication Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panelAbnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
More info about this panelCerebral Cortical Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR ACTB RAB18 ACTG1 RAB3GAP1 RAB3GAP2 FKRP ARX RTTN
More info about this panelCerebral Cortical Malformation Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelHypospadias Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panelARX sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the ARX gene.
More info about this panelLissencephaly Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP
More info about this panelARX deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the ARX gene.
More info about this panelNon-Specific Intellectual Disability Panel Panel
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 panelEarly Infantile Epileptic Encephalopathy Panel Panel
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 panelX-linked Non-Specific Intellectual Disability Panel Panel
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 panelClassic Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Classic Lissencephaly Panel that also includes the following genes: VLDLR ACTB ACTG1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelRett/Angelman Syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Rett/Angelman Syndrome Sequencing Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panelComprehensive Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX
More info about this panelCerebral Cortical Malformations Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1
More info about this panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelARX Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ARX gene.
More info about this panelEpilepsy Panel - Comprehensive Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panelARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX Panel
By Human Genetics University Hospital Bern
This panel specifically test the ARX gene.
More info about this panelComprehensive Brain Malformations Panel Panel
By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP
More info about this panelCortical Brain Malformations Panel Panel
By GeneDx Cortical Brain Malformations Panel that also includes the following genes: TUBA8 VLDLR ARFGEF2 NDE1 FKRP ARX POMGNT1 POMT2 TUBA1A TUBB3
More info about this panelComprehensive Epilepsy Panel Panel
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panelSTAT Epilepsy Panel Panel
By GeneDx STAT Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SPTAN1 CDKL5 STXBP1 PCDH19 ARX
More info about this panelInfantile Epilepsy Panel Panel
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panelLissencephaly Panel Panel
By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1
More info about this panelRett/Atypical Rett/Angelman Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Rett/Atypical Rett/Angelman that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelEpiFirst-Infantile Spasms Panel
By Ambry Genetics EpiFirst-Infantile Spasms that also includes the following genes: SCN2A SCN8A SIK1 SPTAN1 CDKL5 STXBP1 TSC1 TSC2 ARX KCNT1
More info about this panelEpilepsyNext Panel
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelEpiRapid reflex EpilepsyNext Panel
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 panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelARX. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARX gene.
More info about this panelSCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 PCDH19 ARX CHRNA2 CHRNA4 CHRNB2
More info about this panelARX. Detection of the c.428_451dup duplication by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARX gene.
More info about this panelARX. Detection of the c.428_451dup duplication by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARX gene.
More info about this panelARX. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARX gene.
More info about this panelARX. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARX gene.
More info about this panelInfantile Spasms/Atypical Rett Panel - MECP2, ARX, CDKL5 Sequence and Del/Dup Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Infantile Spasms/Atypical Rett Panel - MECP2, ARX, CDKL5 Sequence and Del/Dup Analysis that also includes the following genes: CDKL5 ARX MECP2
More info about this panelAngelman/Rett Seq Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/Rett Seq that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panelAngelman/Rett Del/Dup Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/Rett Del/Dup that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1 DYRK1A
More info about this panelCHOP Epilepsy Panel Panel
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 panelAngelman/ Rett Seq + Del/Dup Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Angelman/ Rett Seq + Del/Dup that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panelX-linked mental retardation (deletion/duplication analysis, multiple genes) Panel
By CGC Genetics X-linked mental retardation (deletion/duplication analysis, multiple genes) that also includes the following genes: RPS6KA3 SLC6A8 TSPAN7 ARX DCX HUWE1 AGTR2 ACSL4 FMR1 AFF2
More info about this panelARX gene (sequence analysis) Panel
By CGC Genetics
This panel specifically test the ARX gene.
More info about this panelLissencephaly (deletion/duplication analysis on ARX gene) Panel
By CGC Genetics
This panel specifically test the ARX gene.
More info about this panelEarly infantile epileptic encephalopathy (NGS panel for 26 genes) Panel
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 panelEarly infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel for 3 genes) Panel
By CGC Genetics Early infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel for 3 genes) that also includes the following genes: CDKL5 ARX SLC25A22
More info about this panelEpileptic encephalopathy (NGS panel for 67 genes) Panel
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 panelMental retardation, X-linked (NGS panel for 89 genes) Panel
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 panelLissencephaly (NGS panel for 12 genes) Panel
By CGC Genetics Lissencephaly (NGS panel for 12 genes) that also includes the following genes: YWHAE NDE1 CDK5 ARX POMT2 TUBA1A DCX KATNB1 LAMB1 PAFAH1B1
More info about this panelEarly Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
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 panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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 panelX-Linked Lissencephaly-2 via ARX Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ARX gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelMale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelNon-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
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 panelAutism Spectrum Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panelRett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 ZEB2 ARX MBD5 WDR45 FOXG1
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelLissencephaly and related disorders NGS test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Deletion / Duplication test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Comprehensive test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly core Deletion / Duplication test Panel
By Connective Tissue Gene Tests Lissencephaly core Deletion / Duplication test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelLissencephaly core Comprehensive test Panel
By Connective Tissue Gene Tests Lissencephaly core Comprehensive test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelLissencephaly core NGS test Panel
By Connective Tissue Gene Tests Lissencephaly core NGS test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panelMental retardation - different panels Panel
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 panelARX-Related Disorders Panel
By MGZ Medical Genetics Center
This panel specifically test the ARX gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelMental Retardation and Dysmorphology - panels Panel
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 panelSyndromal Diseases - panels Panel
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 panelEpileptic Encephalopathy Panel
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 panelEpileptic Encephalopathy – Basic Diagnostics Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy – Basic Diagnostics that also includes the following genes: SCN1A SCN2A SLC2A1 CDKL5 STXBP1 SYNGAP1 PCDH19 ARX KCNT1 PNPO
More info about this panelX-Linked Mental Retardation Panel
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 panelEpilepsy and Mitochondrial Encephalopathy Panel
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 panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelAngelman Syndrome and Differential Diagnoses Panel
By MGZ Medical Genetics Center Angelman Syndrome and Differential Diagnoses that also includes the following genes: SLC9A6 KDM5C CDKL5 SYNGAP1 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX
More info about this panelEpilepsy Panel
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 panelARX Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ARX gene.
More info about this panelEpileptic encephalopathy panel Panel
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 panelEpileptic syndromes with epilepsy and intellectual disability panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panelCorpus callosum, agenesis of, with abnormal genitalia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelPartington syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelLissencephaly panel Panel
By Centogene AG - the Rare Disease Company Lissencephaly panel that also includes the following genes: YWHAE NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelEarly infantile epileptic encephalopathy type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelLissencephaly, X-linked type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelMental retardation, x-linked, with or without seizures , ARX-related Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelHydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelAllNeuro panel Panel
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 panelProud syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelEpileptic encephalopathy early infantile type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARX gene.
More info about this panelARX Panel
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the ARX gene.
More info about this panelEpileptic Encephalopathy Panel Panel
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 panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelEpilepsy and X-linked Mental Retardation with Seizures Panel Panel
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 panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelHereditary Degenerative Syndromes Panel Panel
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panelDystonia All Panel Panel
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panelSingle gene testing ARX Panel
By CeGaT GmbH
This panel specifically test the ARX gene.
More info about this panelTest for ARX-Related Disorders Panel
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the ARX gene.
More info about this panelARX-Related Disorders Panel
By GGA - Galil Genetic Analysis
This panel specifically test the ARX gene.
More info about this panelEpilepsy Panel
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 panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelAutism Spectrum Disorders Panel
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panelEpileptic encephalopathy, early infantile 01 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelHydranencephaly with abnormal genitalia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelLissencephaly, X-linked 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelPartington syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelProud syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelWest syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ARX gene.
More info about this panelARX Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ARX gene.
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelqGenEx Sex development disorders Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panelEpileptic encephalopathy, early infantile 01 Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelHydranencephaly with abnormal genitalia Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelLissencephaly, X-linked 2 Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelPartington syndrome Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelProud syndrome Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelWest syndrome Panel
By MedGene
This panel specifically test the ARX gene.
More info about this panelInvitae Epilepsy Panel Panel
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 panelInvitae Early Infantile Epileptic Encephalopathy Panel Panel
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 panelEncephalopathy, Early infantile epilectic: ARX gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ARX gene.
More info about this panelLISSENCEPHALY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LISSENCEPHALY that also includes the following genes: YWHAE NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelEPILEPSY HEREDITARY PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelEpileptic encephalopathies Panel
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 panelMental retardation, X-linked, non-syndromic Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mental retardation, X-linked, non-syndromic that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X
More info about this panelAutism Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panelRett, Syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panelARX-Related Disorders: ARX Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARX gene.
More info about this panelARX-Related Disorders: ARX Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARX gene.
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
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 panelX-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
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 panelAutism Spectrum Disorders: Tier 2 Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelBrain Malformations: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panelNeurology: Sequencing Panel Panel
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 panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelAutism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelBrain Malformations: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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 panelAutism NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelEpilepsy NGS Panel Panel
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 panelLissencephaly NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lissencephaly NGS Panel that also includes the following genes: VLDLR ACTB ACTG1 FKRP ARX POMGNT1 POMT2 TUBA1A DCX FKTN
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelMigraine NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1
More info about this panelRett-Angelman Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Rett-Angelman Syndrome NGS Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 CAV1 ARX
More info about this panelXLID NGS Panel Panel
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 panelARX Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARX gene.
More info about this panelEssential Epilepsy NGS Panel Panel
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 panelIdiopathic Generalized Epilepsy NGS Panel Panel
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 panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
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 panelComprehensive Epilepsy NGS Panel Panel
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 panelX-chromosome High Resolution microarray analysis Panel
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 panelLissencephaly Panel Panel
By Blueprint Genetics Lissencephaly Panel that also includes the following genes: TUBG1 VLDLR YWHAE ACTB ACTG1 ARX ATP6V0A2 TUBA1A POMGNT2 DCX
More info about this panelX-linked Intellectual Disability Panel Panel
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 panelEpileptic Encephalopathy Panel Panel
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 panelComprehensive Epilepsy Panel Panel
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 panelNeuronal Migration Disorder Panel Panel
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelAbnormal Genitalia/ Disorders of Sex Development Panel Panel
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panelPartington syndrome Panel
By Bioarray
This panel specifically test the ARX gene.
More info about this panelX-linked nonsyndromic intellectual deficit Panel
By Bioarray
This panel specifically test the ARX gene.
More info about this panelX-linked lissencephaly with abnormal genitalia Panel
By Bioarray
This panel specifically test the ARX gene.
More info about this panelEARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Panel
By Laboratorio de Genetica Clinica SL EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY that also includes the following genes: SPTAN1 CDKL5 STXBP1 ARX SLC25A22 KCNQ2
More info about this panelINTELLECTUAL DEFICIT (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT (X-LINKED) that also includes the following genes: RPS6KA3 ARX MECP2
More info about this panelINTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) that also includes the following genes: CDKL5 ARX ATP6AP2 OPHN1
More info about this panelPARTINGTON SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARX gene.
More info about this panelPROUD-LEVINE-CARPENTER SYNDROME (MICRENCEPHALY - CORPUS CALLOSUM AGENESIS - ABNORMAL GENITALIA) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARX gene.
More info about this panelLISSENCEPHALY WITH AMBIGUOUS GENITALIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARX gene.
More info about this panelWEST SYNDROME Panel
By Laboratorio de Genetica Clinica SL WEST SYNDROME that also includes the following genes: CDKL5 ARX
More info about this panelINFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL Panel
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 panelMYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARX gene.
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
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 panelX-Linked Lissencephaly Type 2 , Sequencing ARX Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ARX gene.
More info about this panelEarly Infantile Epileptic Encephalopathy Type 1, Sequencing ARX Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ARX gene.
More info about this panelFamilial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panelEarly Infantile Epileptic Encephalopathy Types 1,2 and 3 , Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes Panel
By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy Types 1,2 and 3 , Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes that also includes the following genes: CDKL5 ARX SLC25A22
More info about this panelLissencephaly, Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: NDE1 ARX TUBA1A DCX PAFAH1B1 RELN
More info about this panelRett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panelMental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panelEarly Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel
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 panelAutism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panelNeuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
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 panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panelX-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
By Reference Laboratory Genetics X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X
More info about this panelTempus xO assay Panel
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 panelSyndromic disorders of sexual development: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic disorders of sexual development: gene sequencing panel that also includes the following genes: SOX9 WT1 ARX DHCR7 GATA4 ATRX POR
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