PRRT2 gene related symptoms and diseases
All the information presented here about the PRRT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRRT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Migraine | Very Common - Between 80% and 100% cases |
| Dyskinesia | Very Common - Between 80% and 100% cases |
| Choreoathetosis | Very Common - Between 80% and 100% cases |
| Abnormality of movement | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PRRT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myoclonus
- Dystonia
- Involuntary movements
- Paroxysmal dystonia
- Ataxia
- Focal-onset seizure
- Paroxysmal dyskinesia
Not very common - Between 30% and 50% cases
- Chorea
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRRT2 gene
Here you will find a list of rare diseases related to the PRRT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PAROXYSMAL EXERTION-INDUCED DYSKINESIA
Alternate names
PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia, dyt18, dystonia 18, ped, paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Description
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
Most common symptoms of PAROXYSMAL EXERTION-INDUCED DYSKINESIA
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA
PAROXYSMAL KINESIGENIC DYSKINESIA
Alternate names
PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10, pkd, paroxysmal kinesigenic choreathetosis, dystonia, familial paroxysmal, pkc, familial paroxysmal kinesigenic dyskinesia, familial pkd, paroxysmal kinesigenic dyskinesia, dyt10, paroxysmal kinesigenic choreoathetosis
Description
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
Most common symptoms of PAROXYSMAL KINESIGENIC DYSKINESIA
- Seizures
- Neoplasm
- Muscle weakness
- Dystonia
- Myoclonus
More info about PAROXYSMAL KINESIGENIC DYSKINESIA
BENIGN FAMILIAL INFANTILE EPILEPSY
Alternate names
BENIGN FAMILIAL INFANTILE EPILEPSY Is also known as bfis, benign familial infantile seizures, bfie, benign familial infantile convulsions
Description
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Most common symptoms of BENIGN FAMILIAL INFANTILE EPILEPSY
- Seizures
- Muscular hypotonia
- Fatigue
- Hypertonia
- Myoclonus
More info about BENIGN FAMILIAL INFANTILE EPILEPSY
SOURCES: ORPHANET
FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE
Description
Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).
Most common symptoms of FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Blindness
More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE
INFANTILE CONVULSIONS AND CHOREOATHETOSIS
Alternate names
INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions, icca syndrome, pkd/ic, infantile convulsions and paroxysmal choreoathetosis, familial, paroxysmal kinesigenic dyskinesia with infantile convulsions
Description
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.
Most common symptoms of INFANTILE CONVULSIONS AND CHOREOATHETOSIS
- Seizures
- Ataxia
- Dystonia
- Anxiety
- Apnea
More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS
PAROXYSMAL NON-KINESIGENIC DYSKINESIA
Alternate names
PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis, choreoathetosis, nonkinesigenic, pdc, dystonia 8, paroxystic non-kinesigenic choreoathetosis, dyt8, choreoathetosis, familial paroxysmal, mount-reback syndrome, fpd1
Description
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
Most common symptoms of PAROXYSMAL NON-KINESIGENIC DYSKINESIA
- Seizures
- Ataxia
- Spasticity
- Dysarthria
- Fatigue
More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA
SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
Alternate names
SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2, convulsions, benign familial infantile, 2
Description
Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).
Most common symptoms of SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
- Seizures
- Generalized hypotonia
- Pallor
- Generalized tonic-clonic seizures
- Dyskinesia
More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
Search interest in PRRT2
Potential gene panels for PRRT2 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
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 United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine that also includes the following genes: SCN1A SLC2A1 CACNA1A PRRT2 NOTCH3 ATP1A2 POLG
More info about this panel United States.
PRRT2 (Dyskinesia/IC) Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the PRRT2 gene.
More info about this panel United States.
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 United States.
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
More info about this panel United States.
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
More info about this panel United States.
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 United States.
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
More info about this panel United States.
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 United States.
Ataxia Exome Panel Panel
United States.
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 panel United States.
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
More info about this panel Argentina.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
EpiFirst-Fever Panel
United States.
By Ambry Genetics EpiFirst-Fever that also includes the following genes: SCN1A SCN1B SCN2A SCN8A STXBP1 PCDH19 STX1B CHD2 PRRT2 GABRA1
More info about this panel United States.
EpiFirst-Focal Panel
United States.
By Ambry Genetics EpiFirst-Focal that also includes the following genes: SCN1A SCN1B DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH PRRT2 GRIN2A
More info about this panel United States.
EpilepsyNext Panel
United States.
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
EpiRapid Panel
United States.
By Ambry Genetics EpiRapid that also includes the following genes: SCN1A SCN8A SLC2A1 STXBP1 TSC1 TSC2 PCDH19 KCNT1 PNPO PRRT2
More info about this panel United States.
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 United States.
Familial Hemiplegic Migraine Panel Panel
United States.
By Ambry Genetics Familial Hemiplegic Migraine Panel that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2
More info about this panel United States.
PRRT2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
PRRT2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN2A PRRT2
More info about this panel Spain.
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: PRRT2 KCNQ2
More info about this panel Spain.
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 United States.
Episodic kinesigenic dyskinesia 1 (sequence analysis of PRRT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRRT2 gene.
More info about this panel Portugal.
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 Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRRT2 gene.
More info about this panel Portugal.
Episodic kinesigenic dyskinesia (deletion/duplication analysis of PRRT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRRT2 gene.
More info about this panel Portugal.
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 United States.
Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PRRT2 gene.
More info about this panel United States.
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 United States.
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemiplegic Migraine Sequencing Panel with CNV Detection that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2
More info about this panel United States.
Dystonia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
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 United States.
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 Germany.
Familial Paroxysmal Kinesigenic Dyskinesia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PRRT2 gene.
More info about this panel Germany.
Benign Familial Infantile Seizures 2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PRRT2 gene.
More info about this panel Germany.
Familial Infantile Convulsions with Paroxysmal Choreoathetosis Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PRRT2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) Panel
Germany.
By MGZ Medical Genetics Center Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3
More info about this panel Germany.
Ataxia Panel
Germany.
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panel Germany.
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 Germany.
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 Germany.
Episodic Ataxia and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2
More info about this panel Germany.
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 Germany.
Benign neonatal/infantile convulsions panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Benign neonatal/infantile convulsions panel that also includes the following genes: SCN2A TBC1D24 PRRT2 KCNQ2 KCNQ3
More info about this panel Netherlands.
Epilepsy with paroxysmal disorders panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Epilepsy with paroxysmal disorders panel that also includes the following genes: SLC2A1 CACNA1A PRRT2 KCNMA1 ATP1A2
More info about this panel Netherlands.
DYT10 - Paroxysmal kinesigenic dyskinesia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRRT2 gene.
More info about this panel Germany.
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 Germany.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Germany.
By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panel Germany.
Migraine Panel Panel
Germany.
By CeGaT GmbH Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
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 panel Germany.
Paroxysmal Dyskinesia Panel Panel
Germany.
By CeGaT GmbH Paroxysmal Dyskinesia Panel that also includes the following genes: SCN8A SLC2A1 ADCY5 PRRT2 KCNMA1 PNKD
More info about this panel Germany.
Paroxysmal Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Paroxysmal Movement Disorders Panel that also includes the following genes: SLC2A1 PRRT2 KCNMA1 PNKD
More info about this panel Germany.
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 Germany.
Single gene testing PRRT2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PRRT2 gene.
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
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 Estonia.
Convulsions, familial infantile with paroxysmal choreoathetosis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PRRT2 gene.
More info about this panel Austria.
Dyskinesia episodic kinesigenic 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PRRT2 gene.
More info about this panel Austria.
Seizures, benign familial infantile 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PRRT2 gene.
More info about this panel Austria.
Convulsions, familial infantile with paroxysmal choreoathetosis Panel
Slovakia.
By MedGene
This panel specifically test the PRRT2 gene.
More info about this panel Slovakia.
Dyskinesia episodic kinesigenic 1 Panel
Slovakia.
By MedGene
This panel specifically test the PRRT2 gene.
More info about this panel Slovakia.
Seizures, benign familial infantile 2 Panel
Slovakia.
By MedGene
This panel specifically test the PRRT2 gene.
More info about this panel Slovakia.
Invitae Dystonia Comprehensive Panel Panel
United States.
By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
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 United States.
Paroxysmal kinesigenic dyskinesia: PRRT2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
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 Spain.
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 United States.
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 United States.
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
More info about this panel United States.
Dystonia Dyskinesia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A
More info about this panel United States.
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
More info about this panel United States.
PRRT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRRT2 gene.
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
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
More info about this panel United States.
Ataxia Panel Panel
Finland.
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 panel Finland.
Migraine Panel Panel
Finland.
By Blueprint Genetics Migraine Panel that also includes the following genes: SCN1A SLC1A3 SLC2A1 CACNA1A KCNK18 PRRT2 NOTCH3 ATP1A2 ATP1A3 POLG
More info about this panel Finland.
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
More info about this panel Finland.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Finland.
By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR
More info about this panel Finland.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
Seizures, benign neonatal, 1 Panel
Spain.
By Bioarray
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
Paroxysmal kinesigenic dyskinesia Panel
Spain.
By Bioarray
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
PRRT2 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PRRT2 gene.
More info about this panel United States.
BENIGN FAMILIAL INFANTILE EPILEPSY Panel
Spain.
By Laboratorio de Genetica Clinica SL BENIGN FAMILIAL INFANTILE EPILEPSY that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3
More info about this panel Spain.
PAROXYSMAL KINESIGENIC DYSKINESIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
EPISODIC KINESIGENIC DYSKINESIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
HEMIPLEGIC MIGRAINE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HEMIPLEGIC MIGRAINE NGS PANEL that also includes the following genes: SCN1A CACNA1A PRRT2 ATP1A2
More info about this panel Spain.
Dystonia 10 Panel
Canada.
By LifeLabs Genetics
This panel specifically test the PRRT2 gene.
More info about this panel Canada.
Paroxysmal Kinesigenic Dyskinesia , Sequencing PRRT2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRRT2 gene.
More info about this panel Spain.
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
More info about this panel Spain.
Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SCN2A PRRT2 KCNQ2 KCNQ3
More info about this panel Spain.
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