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.

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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

SOURCES: ORPHANET OMIM

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.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: MESH OMIM

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH ORPHANET

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


Potential gene panels for ARX gene

ARX Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ARX gene.

More info about this panel

ARX Sequencing and CNV Evaluation (Epilepsy) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ARX gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

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 panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

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

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

United States.

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

ARX Sequencing and CNV Evaluation (Intellectual Disability) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ARX gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

United States.

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

Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

United States.

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

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Syndromic Autism Panel Panel

United States.

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

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NGS XLID Panel Panel

United States.

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

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Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

United States.

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

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NGS Epilepsy/Seizure Panel Panel

United States.

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

ARX-related spectrum Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the ARX gene.

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ARX Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ARX gene.

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Agenesis of the Corpus Callosum Panel

United States.

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

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Comprehensive Brain Malformation Panel Panel

United States.

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

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Dystonia Panel

United States.

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

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Epilepsy/Seizure Panel

United States.

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

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Infantile Epilepsy Panel

United States.

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 panel

Movement Disorders Panel Panel

United States.

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

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X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

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

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X-linked Intellectual Disabilities Sequencing Panel

United States.

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

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

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

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ARX-Related Disorder Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the ARX gene.

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Rett/Angelman Syndrome Deletion/Duplication Panel Panel

United States.

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

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Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

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

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46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

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

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Cerebral Cortical Deletion/Duplication Panel Panel

United States.

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

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Cerebral Cortical Malformation Sequencing Panel Panel

United States.

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

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Hypospadias Sequencing Panel Panel

United States.

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

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ARX sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ARX gene.

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Lissencephaly Sequencing Panel Panel

United States.

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 panel

ARX deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ARX gene.

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

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

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Early Infantile Epileptic Encephalopathy Panel Panel

United States.

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

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X-linked Non-Specific Intellectual Disability Panel Panel

United States.

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

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Classic Lissencephaly Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Classic Lissencephaly Panel that also includes the following genes: VLDLR ACTB ACTG1 ARX TUBA1A DCX PAFAH1B1 RELN

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Rett/Angelman Syndrome Sequencing Panel Panel

United States.

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

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Comprehensive Lissencephaly Panel Panel

United States.

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

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Cerebral Cortical Malformations Deletion/Duplication Panel Panel

United States.

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

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46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

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

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Dystonia Exome Panel Panel

United States.

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 panel

ARX Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ARX gene.

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Epilepsy Panel - Comprehensive Panel

Argentina.

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

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ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the ARX gene.

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Comprehensive Brain Malformations Panel Panel

United States.

By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP

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Cortical Brain Malformations Panel Panel

United States.

By GeneDx Cortical Brain Malformations Panel that also includes the following genes: TUBA8 VLDLR ARFGEF2 NDE1 FKRP ARX POMGNT1 POMT2 TUBA1A TUBB3

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Comprehensive Epilepsy Panel Panel

United States.

By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1

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STAT Epilepsy Panel Panel

United States.

By GeneDx STAT Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SPTAN1 CDKL5 STXBP1 PCDH19 ARX

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Infantile Epilepsy Panel Panel

United States.

By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4

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Lissencephaly Panel Panel

United States.

By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1

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Rett/Atypical Rett/Angelman Panel

United States.

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

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Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

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

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CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

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Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

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EpiFirst-Infantile Spasms Panel

United States.

By Ambry Genetics EpiFirst-Infantile Spasms that also includes the following genes: SCN2A SCN8A SIK1 SPTAN1 CDKL5 STXBP1 TSC1 TSC2 ARX KCNT1

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EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

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EpiRapid reflex EpilepsyNext Panel

United States.

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

IDNext Panel

United States.

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

ARX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARX gene.

More info about this panel

SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel

ARX. Detection of the c.428_451dup duplication by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARX gene.

More info about this panel

ARX. Detection of the c.428_451dup duplication by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARX gene.

More info about this panel

ARX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARX gene.

More info about this panel

ARX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ARX gene.

More info about this panel

Infantile Spasms/Atypical Rett Panel - MECP2, ARX, CDKL5 Sequence and Del/Dup Analysis Panel

United States.

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 panel

Angelman/Rett Seq Panel

United States.

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 panel

Angelman/Rett Del/Dup Panel

United States.

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 panel

CHOP Epilepsy Panel Panel

United States.

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

Angelman/ Rett Seq + Del/Dup Panel

United States.

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 panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Portugal.

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 panel

ARX gene (sequence analysis) Panel

Portugal.

By CGC Genetics

This panel specifically test the ARX gene.

More info about this panel

Lissencephaly (deletion/duplication analysis on ARX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ARX gene.

More info about this panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

Portugal.

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

Early infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel for 3 genes) Panel

Portugal.

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 panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Portugal.

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

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

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

Lissencephaly (NGS panel for 12 genes) Panel

Portugal.

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 panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

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

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

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

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

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 panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

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

X-Linked Lissencephaly-2 via ARX Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ARX gene.

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

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 panel

Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

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

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

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 panel

Lissencephaly and related disorders NGS test Panel

United States.

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 panel

Lissencephaly and related disorders Deletion / Duplication test Panel

United States.

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 panel

Lissencephaly and related disorders Comprehensive test Panel

United States.

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 panel

Lissencephaly core Deletion / Duplication test Panel

United States.

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 panel

Lissencephaly core Comprehensive test Panel

United States.

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 panel

Lissencephaly core NGS test Panel

United States.

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 panel

Mental retardation - different panels Panel

Germany.

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

ARX-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ARX gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Epileptic Encephalopathy Panel

Germany.

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

Epileptic Encephalopathy – Basic Diagnostics Panel

Germany.

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 panel

X-Linked Mental Retardation Panel

Germany.

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

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

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 panel

Angelman Syndrome and Differential Diagnoses Panel

Germany.

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 panel

Epilepsy Panel

Germany.

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

ARX Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ARX gene.

More info about this panel

Epileptic encephalopathy panel Panel

Netherlands.

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

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Netherlands.

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 panel

Corpus callosum, agenesis of, with abnormal genitalia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Partington syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Lissencephaly panel Panel

Germany.

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 panel

Early infantile epileptic encephalopathy type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Lissencephaly, X-linked type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Mental retardation, x-linked, with or without seizures , ARX-related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Proud syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

Epileptic encephalopathy early infantile type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARX gene.

More info about this panel

ARX Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the ARX gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Germany.

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

Neuronal Migration Disorders Panel Panel

Germany.

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 panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Germany.

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

Neuronal Migration Disorders Panel Panel

Germany.

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 panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

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 panel

Dystonia All Panel Panel

Germany.

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 panel

Single gene testing ARX Panel

Germany.

By CeGaT GmbH

This panel specifically test the ARX gene.

More info about this panel

Test for ARX-Related Disorders Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the ARX gene.

More info about this panel

ARX-Related Disorders Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the ARX gene.

More info about this panel

Epilepsy Panel

Estonia.

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

Brain malformations Panel

Estonia.

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 panel

Autism Spectrum Disorders Panel

Estonia.

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 panel

Epileptic encephalopathy, early infantile 01 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

Hydranencephaly with abnormal genitalia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

Lissencephaly, X-linked 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

Partington syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

Proud syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

West syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ARX gene.

More info about this panel

ARX Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ARX gene.

More info about this panel

qChip Panel

Spain.

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 panel

qCarrier Plus Panel

Spain.

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 panel

qGenEx Sex development disorders Panel

Spain.

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 panel

Epileptic encephalopathy, early infantile 01 Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

Hydranencephaly with abnormal genitalia Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

Lissencephaly, X-linked 2 Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

Partington syndrome Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

Proud syndrome Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

West syndrome Panel

Slovakia.

By MedGene

This panel specifically test the ARX gene.

More info about this panel

Invitae Epilepsy Panel Panel

United States.

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

Invitae Early Infantile Epileptic Encephalopathy Panel Panel

United States.

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

Encephalopathy, Early infantile epilectic: ARX gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ARX gene.

More info about this panel

LISSENCEPHALY Panel

Spain.

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 panel

EPILEPSY HEREDITARY PANEL Panel

Spain.

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 panel

Epileptic encephalopathies Panel

Spain.

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

Mental retardation, X-linked, non-syndromic Panel

Spain.

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 panel

Autism Panel

Spain.

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 panel

Rett, Syndrome Panel

Spain.

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 panel

ARX-Related Disorders: ARX Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ARX gene.

More info about this panel

ARX-Related Disorders: ARX Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ARX gene.

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

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

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

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

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

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 panel

Brain Malformations: Sequencing Panel Panel

United States.

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 panel

Neurology: Sequencing Panel Panel

United States.

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

Dystonia: Sequencing Panel Panel

United States.

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

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Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

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

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Brain Malformations: Deletion/Duplication Panel Panel

United States.

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

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Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

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

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Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

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Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

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Lissencephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lissencephaly NGS Panel that also includes the following genes: VLDLR ACTB ACTG1 FKRP ARX POMGNT1 POMT2 TUBA1A DCX FKTN

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Intellectual Disability NGS Panel Panel

United States.

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

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Migraine NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Migraine NGS Panel that also includes the following genes: SCN1A SLC2A1 CDKL5 STXBP1 CACNA1A PCDH19 ARX PNPO FOLR1 FOXG1

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Rett-Angelman Syndrome NGS Panel Panel

United States.

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

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XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

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ARX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARX gene.

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Essential Epilepsy NGS Panel Panel

United States.

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

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Idiopathic Generalized Epilepsy NGS Panel Panel

United States.

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

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Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

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

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Comprehensive Epilepsy NGS Panel Panel

United States.

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

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X-chromosome High Resolution microarray analysis Panel

United States.

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

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Lissencephaly Panel Panel

Finland.

By Blueprint Genetics Lissencephaly Panel that also includes the following genes: TUBG1 VLDLR YWHAE ACTB ACTG1 ARX ATP6V0A2 TUBA1A POMGNT2 DCX

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X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

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Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

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Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

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Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

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Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

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

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Partington syndrome Panel

Spain.

By Bioarray

This panel specifically test the ARX gene.

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X-linked nonsyndromic intellectual deficit Panel

Spain.

By Bioarray

This panel specifically test the ARX gene.

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X-linked lissencephaly with abnormal genitalia Panel

Spain.

By Bioarray

This panel specifically test the ARX gene.

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EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY that also includes the following genes: SPTAN1 CDKL5 STXBP1 ARX SLC25A22 KCNQ2

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INTELLECTUAL DEFICIT (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT (X-LINKED) that also includes the following genes: RPS6KA3 ARX MECP2

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INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) that also includes the following genes: CDKL5 ARX ATP6AP2 OPHN1

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PARTINGTON  SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ARX gene.

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PROUD-LEVINE-CARPENTER SYNDROME (MICRENCEPHALY - CORPUS CALLOSUM AGENESIS - ABNORMAL GENITALIA) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ARX gene.

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LISSENCEPHALY WITH AMBIGUOUS GENITALIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ARX gene.

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WEST SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL WEST SYNDROME that also includes the following genes: CDKL5 ARX

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INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL Panel

Spain.

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

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MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ARX gene.

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PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

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

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X-Linked Lissencephaly Type 2 , Sequencing ARX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ARX gene.

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Early Infantile Epileptic Encephalopathy Type 1, Sequencing ARX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ARX gene.

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Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel

Spain.

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

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Early Infantile Epileptic Encephalopathy Types 1,2 and 3 , Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes Panel

Spain.

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

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Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: NDE1 ARX TUBA1A DCX PAFAH1B1 RELN

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Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

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

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Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

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

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Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

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

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Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

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

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Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

Spain.

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

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Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel

Spain.

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

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X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

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

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Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

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Syndromic disorders of sexual development: gene sequencing panel Panel

Canada.

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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