PNKP gene related symptoms and diseases
All the information presented here about the PNKP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PNKP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Peripheral neuropathy | Common - Between 50% and 80% cases |
| Cerebellar atrophy | Common - Between 50% and 80% cases |
| Epileptic encephalopathy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PNKP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Encephalopathy
Not very common - Between 30% and 50% cases
- Skeletal muscle atrophy
- Ventriculomegaly
- Hypoplasia of the corpus callosum
- Intellectual disability, severe
- Behavioral abnormality
- Absent speech
- Immunodeficiency
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PNKP gene
Here you will find a list of rare diseases related to the PNKP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ATAXIA-OCULOMOTOR APRAXIA TYPE 4
Alternate names
ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4
Description
Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).
Most common symptoms of ATAXIA-OCULOMOTOR APRAXIA TYPE 4
- Ataxia
- Muscle weakness
- Cognitive impairment
- Peripheral neuropathy
- Cerebellar atrophy
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
SOURCES: ORPHANET
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
Alternate names
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10, eiee10
Description
Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Most common symptoms of MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM
Search interest in PNKP
Potential gene panels for PNKP gene
Epilepsy 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 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 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 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 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 panelPNKP sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PNKP gene.
More info about this panelRett/Angelman Syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Rett/Angelman Syndrome Deletion/Duplication Panel that also includes the following genes: SLC2A1 SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5
More info about this panelAutosomal Recessive Primary Microcephaly Tier 2 panel Panel
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
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 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 panelPNKP deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the PNKP gene.
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 panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this 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 panelPNKP Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PNKP gene.
More info about this panelEpilepsy Panel - Comprehensive Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this 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 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/Atypical Rett/Angelman Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Rett/Atypical Rett/Angelman that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A CNTNAP2 PCDH19 ZEB2 ARX MBD5 EHMT1
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelCustomNext: Neuro Panel
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelNeurodevelopment-Expanded Panel
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this 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 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 panelEarly infantile epileptic encephalopathy type 10 (sequence analysis of PNKP gene) Panel
By CGC Genetics
This panel specifically test the PNKP gene.
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
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 panelMicrocephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
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 panelAtaxia-oculomotor apraxia type 4 (sequence analysis of PNKP gene) Panel
By CGC Genetics
This panel specifically test the PNKP gene.
More info about this panelAtaxia-oculomotor apraxia type 4 (sequence analysis of PNKP gene) Panel
By CGC Genetics
This panel specifically test the PNKP gene.
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 panelMicrocephaly, Seizures and Developmental Delay via PNKP Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PNKP gene.
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 panelMicrocephaly Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly that also includes the following genes: STIL ZNF335 CENPJ CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
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 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 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 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 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 panelPNKP Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PNKP gene.
More info about this panelEpileptic encephalopathy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelEpileptic syndromes with epilepsy and intellectual disability panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panelMicrocephaly panel Panel
By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2
More info about this panelEarly infantile epileptic encephalopathy type 10 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PNKP 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 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 panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing PNKP Panel
By CeGaT GmbH
This panel specifically test the PNKP gene.
More info about this panelAtaxia, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panelMicrocephaly Panel
By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM
More info about this panelSpinocerebellar Ataxia Panel
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panelEpilepsy Panel
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this 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 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 panelEarly Infantile Epileptic Encephalopathy Type 10: PNKP Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PNKP gene.
More info about this panelEarly Infantile Epileptic Encephalopathy Type 10: PNKP Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PNKP 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 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 panelMicrocephaly NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
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 panelPNKP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PNKP 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 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 panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
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 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 panelATAXIA-OCULOMOTOR APRAXIA 4 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PNKP gene.
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
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