CDKL5 gene related symptoms and diseases
All the information presented here about the CDKL5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDKL5 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Encephalopathy | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Microcephaly | Common - Between 50% and 80% cases |
Developmental regression | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CDKL5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intellectual disability, profound
- Intellectual disability, severe
- Intellectual disability
- Generalized myoclonic seizures
- Epileptic encephalopathy
- Developmental stagnation
Not very common - Between 30% and 50% cases
- Hypsarrhythmia
- Abnormality of the nervous system
And 175 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDKL5 gene
Here you will find a list of rare diseases related to the CDKL5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED RETINOSCHISIS
Alternate names
X-LINKED RETINOSCHISIS Is also known as rs, x-linked juvenile retinoschisis, xlrs, xlrs1
Description
X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
Most common symptoms of X-LINKED RETINOSCHISIS
- Nystagmus
- Strabismus
- Cataract
- Visual impairment
- Blindness
More info about X-LINKED RETINOSCHISIS
ATYPICAL RETT SYNDROME
Alternate names
ATYPICAL RETT SYNDROME Is also known as atypical rtt, rett syndrome variant, autism, dementia, ataxia, and loss of purposeful hand use, rts
Description
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).
Most common symptoms of ATYPICAL RETT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ATYPICAL RETT SYNDROME
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
CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY
Alternate names
CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2, cdkl5 deficiency disorder, infantile spasm syndrome, x-linked 2
Description
Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Most common symptoms of CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY
Search interest in CDKL5
Potential gene panels for CDKL5 gene
CDKL5 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the CDKL5 gene.
More info about this panelPreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panelCDKL5 Sequencing and CNV Evaluation (Epilepsy) Panel
By Athena Diagnostics Inc
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 Sequencing and CNV Evaluation (Atypical Rett) Panel
By Athena Diagnostics Inc
This panel specifically test the CDKL5 gene.
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 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 panelAtypical Rett Syndrome Panel
By Center for Human Genetics, Inc
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome - CDKL5 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the CDKL5 gene.
More info about this panelRett Syndrome, Atypical, CDKL5, Sequencing Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the CDKL5 gene.
More info about this panelChildhood Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
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 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 panelMicrocephaly Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT
More info about this panelRett - Angelman Syndrome Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Rett - Angelman Syndrome that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 ZEB2 MBD5 WDR45 FOXG1 MECP2
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 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 panelCDKL5 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the CDKL5 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 panelRett/Atypical Rett Syndrome Panel Panel
By Genetic Services Laboratory University of Chicago Rett/Atypical Rett Syndrome Panel that also includes the following genes: CDKL5 FOXG1 MECP2 MEF2C
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 panelMicrocephaly Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panelMicrocephaly Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
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 panelCYCLIN-DEPENDENT KINASE-LIKE 5; CDKL Panel
By Human Genetics University Hospital Bern
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5-Related Disorders Seq and Del/Dup Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5-Related Disorders (CDKL5) Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the CDKL5 gene.
More info about this panelCDKL5-Related Disorders (CDKL5) Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the CDKL5 gene.
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 panelChildhood-Onset Epilepsy Panel Panel
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panelRett/Angelman Syndrome Panel Panel
By GeneDx Rett/Angelman Syndrome Panel that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 ZEB2 MBD5 FOXG1 MECP2 MEF2C
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 panelAutismNext Panel
By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1
More info about this panelCDKL5 gene sequence and deletion/duplication Panel
By Ambry Genetics
This panel specifically test the CDKL5 gene.
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 panelCDKL5 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the CDKL5 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 panelCDKL5. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDKL5 gene.
More info about this panelMECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS that also includes the following genes: CDKL5 NTNG1 MECP2
More info about this panelAtypical Rett Syndrome - CDKL5 Sequence and Del/Dup Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome - CDKL5 Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome - CDKL5 Deletion/Duplication Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome - CDKL5 Known Point Mutation Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the CDKL5 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 panelWest syndrome (sequence analysis of CDKL5 gene) Panel
By CGC Genetics
This panel specifically test the CDKL5 gene.
More info about this panelEpileptic encephalopathy, early infantile, 2 Panel
By CGC Genetics
This panel specifically test the CDKL5 gene.
More info about this panelVariant Rett Syndrome (sequence analysis of CDKL5 gene) Panel
By CGC Genetics
This panel specifically test the CDKL5 gene.
More info about this panelRett syndrome, atypical (deletion/duplication analysis of CDKL5 gene) Panel
By CGC Genetics
This panel specifically test the CDKL5 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 panelRett and Rett-like syndrome (NGS panel of 8 genes) Panel
By CGC Genetics Rett and Rett-like syndrome (NGS panel of 8 genes) that also includes the following genes: CDKL5 TCF4 MBD5 IQSEC2 FOXG1 KCNA2 MECP2 MEF2C
More info about this panelRett and Rett-like syndrome (NGS panel of 8 genes) Panel
By CGC Genetics Rett and Rett-like syndrome (NGS panel of 8 genes) that also includes the following genes: CDKL5 TCF4 MBD5 IQSEC2 FOXG1 KCNA2 MECP2 MEF2C
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 panelEarly Infantile Epileptic Encephalopathy and Rett-like Syndrome via CDKL5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CDKL5 gene.
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 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 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 panelEpileptic Encephalopathy, Early Infantile, 2 Panel
By MGZ Medical Genetics Center
This panel specifically test the CDKL5 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 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 panelAngelman-like syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKL5 gene.
More info about this panelEarly infantile epileptic encephalopathy type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKL5 gene.
More info about this panelEpileptic encephalopathy, early infantile type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKL5 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 panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelAutism Spectrum Disorders / Intellectual Disability Disorder Panel
By Michigan Medical Genetics Laboratories University of Michigan Autism Spectrum Disorders / Intellectual Disability Disorder that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A NLGN4X NLGN3 SHANK3 SHANK2 MBD5
More info about this panelCDKL5 Gene Sequencing Panel
By Michigan Medical Genetics Laboratories University of Michigan
This panel specifically test the CDKL5 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 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 panelSingle gene testing CDKL5 Panel
By CeGaT GmbH
This panel specifically test the CDKL5 gene.
More info about this panelTest for Epileptic Encephalopathy, Early Infantile, 2 Panel
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the CDKL5 gene.
More info about this panelCYCLIN-DEPENDENT KINASE-LIKE 5 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the CDKL5 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 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 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CDKL5 gene.
More info about this panelAngelman-like syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CDKL5 gene.
More info about this panelRett-like syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the CDKL5 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 panelAngelman-like syndrome Panel
By MedGene
This panel specifically test the CDKL5 gene.
More info about this panelEpileptic encephalopathy, early infantile 2 Panel
By MedGene
This panel specifically test the CDKL5 gene.
More info about this panelRett-like syndrome Panel
By MedGene
This panel specifically test the CDKL5 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 panelInvitae Rett and Angelman Syndromes and Related Disorders Panel Panel
By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5
More info about this panelRett syndrome: CDKL5 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDKL5 gene.
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 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 panelAtypical Rett Syndrome: CDKL5 Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome: CDKL5 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the CDKL5 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 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 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 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 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 panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
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 panelCDKL5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDKL5 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 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 panelRett syndrome atypical Panel
By Bioarray
This panel specifically test the CDKL5 gene.
More info about this panelAngelman syndrome Panel
By Bioarray
This panel specifically test the CDKL5 gene.
More info about this panelRett syndrome NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Rett syndrome NGS and Deletion/Duplication Panel that also includes the following genes: CDKL5 MECP2
More info about this panelRett Plus Atypical Rett Syndrome Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Rett Plus Atypical Rett Syndrome Panel that also includes the following genes: CDKL5 FOXG1 MECP2 MEF2C
More info about this panelCDKL5 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CDKL5 gene.
More info about this panelExome Panel
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
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 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 panelRETT SYNDROME Panel
By Laboratorio de Genetica Clinica SL RETT SYNDROME that also includes the following genes: CDKL5 FOXG1 MECP2
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 panelAtypical Rett Syndrome, Sequencing CDKL5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDKL5 gene.
More info about this panelEarly Infantile Epileptic Encephalopathy Type 2 , Sequencing CDKL5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDKL5 gene.
More info about this panelAtypical Rett Syndrome, Deletions-Duplications (MLPA) CDKL5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDKL5 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 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 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 panelEarly infantile epileptic encephalopathy 2 Panel
By Labor Dr. Wisplinghoff
This panel specifically test the CDKL5 gene.
More info about this panelAngelman syndrome-like Panel
By Labor Dr. Wisplinghoff
This panel specifically test the CDKL5 gene.
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