SCN4A gene related symptoms and diseases
All the information presented here about the SCN4A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCN4A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myotonia | Very Common - Between 80% and 100% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
| Myalgia | Common - Between 50% and 80% cases |
| Skeletal muscle hypertrophy | Common - Between 50% and 80% cases |
| Paralysis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SCN4A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gait disturbance
- Ophthalmoparesis
- EMG abnormality
- Periodic paralysis
- Hypertonia
- Episodic flaccid weakness
- Elevated serum creatine phosphokinase
- Chest pain
And 120 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCN4A gene
Here you will find a list of rare diseases related to the SCN4A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARAMYOTONIA CONGENITA OF VON EULENBURG
Alternate names
PARAMYOTONIA CONGENITA OF VON EULENBURG Is also known as paramyotonia congenita
Description
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
Most common symptoms of PARAMYOTONIA CONGENITA OF VON EULENBURG
- Feeding difficulties
- Dysphagia
- Neonatal hypotonia
- Myalgia
- Muscle stiffness
More info about PARAMYOTONIA CONGENITA OF VON EULENBURG
SOURCES: ORPHANET
MYOTONIA, POTASSIUM-AGGRAVATED
Alternate names
MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive, myotonia fluctuans, sodium channel muscle disease, myotonia congenita, atypical, myotonia permanens
Description
In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.
Most common symptoms of MYOTONIA, POTASSIUM-AGGRAVATED
- Generalized hypotonia
- Muscle weakness
- Feeding difficulties
- Fever
- Fatigue
More info about MYOTONIA, POTASSIUM-AGGRAVATED
SOURCES: OMIM
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
Alternate names
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica
Most common symptoms of PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
- Global developmental delay
- Generalized hypotonia
- Muscle weakness
- Abnormal facial shape
- Pain
More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
SOURCES: OMIM
MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive
Description
Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
- Muscle weakness
- Ptosis
- Cognitive impairment
- High palate
- Motor delay
More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16
SOURCES: OMIM
HYPERKALEMIC PERIODIC PARALYSIS
Alternate names
HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria, hypp, familial hyperkalemic periodic paralysis, hyperkpp, gamstorp disease, familial hyperpp, gamstorp episodic adynamy, hyperpp, hyperkalemic pp, primary hyperpp, primary hyperkalemic periodic paralysis
Description
Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Most common symptoms of HYPERKALEMIC PERIODIC PARALYSIS
- Flexion contracture
- Skeletal muscle atrophy
- Gait disturbance
- Respiratory insufficiency
- Myopathy
More info about HYPERKALEMIC PERIODIC PARALYSIS
SOURCES: ORPHANET
HYPOKALEMIC PERIODIC PARALYSIS
Alternate names
HYPOKALEMIC PERIODIC PARALYSIS Is also known as westphall disease
Description
Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
Most common symptoms of HYPOKALEMIC PERIODIC PARALYSIS
- Paralysis
- EMG abnormality
- Myotonia
- Mildly elevated creatine phosphokinase
- Adrenocortical adenoma
More info about HYPOKALEMIC PERIODIC PARALYSIS
SOURCES: ORPHANET
HYPERKALEMIC PERIODIC PARALYSIS; HYPP
Alternate names
HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia, gamstorp disease
Description
The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.
Most common symptoms of HYPERKALEMIC PERIODIC PARALYSIS; HYPP
- Global developmental delay
- Short stature
- Microcephaly
- Muscle weakness
- Abnormal facial shape
More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP
SOURCES: OMIM
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
Most common symptoms of HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
- Muscle weakness
- Myopathy
- Paralysis
- Hypokalemia
- Myotonia
More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
MYOTONIA FLUCTUANS
Alternate names
MYOTONIA FLUCTUANS Is also known as fluctuating myotonia, exercise-induced delayed-onset myotonia
Description
Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
Most common symptoms of MYOTONIA FLUCTUANS
- Muscle weakness
- Spasticity
- Gait disturbance
- Dysphagia
- Myopathy
More info about MYOTONIA FLUCTUANS
SOURCES: ORPHANET
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Scoliosis
- Muscle weakness
- Ptosis
- High palate
- Skeletal muscle atrophy
More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
MYOTONIA PERMANENS
Description
Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).
Most common symptoms of MYOTONIA PERMANENS
- Intellectual disability
- Short stature
- Muscle weakness
- Epicanthus
- Gait disturbance
More info about MYOTONIA PERMANENS
SOURCES: ORPHANET
ACETAZOLAMIDE-RESPONSIVE MYOTONIA
Alternate names
ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia, acetazolamide-responsive congenital myotonia, acz-responsive congenital myotonia, painful congenital myotonia, myotonia-painful contractions syndrome, acz-responsive myotonia
Description
Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).
Most common symptoms of ACETAZOLAMIDE-RESPONSIVE MYOTONIA
- Gait disturbance
- Dysphagia
- Hypertonia
- Hypothyroidism
- Myalgia
More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA
SOURCES: ORPHANET
Search interest in SCN4A
Potential gene panels for SCN4A gene
SCN4A (Myotonia) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the SCN4A gene.
More info about this panel United States.
Early Onset Myotonia Evaluation Panel
United States.
By Athena Diagnostics Inc Early Onset Myotonia Evaluation that also includes the following genes: SCN4A CLCN1 DMPK
More info about this panel United States.
Myotonic Syndrome Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
More info about this panel United States.
Periodic Paralysis Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Periodic Paralysis Advanced Sequencing Evaluation that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
SCN4A Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SCN4A gene.
More info about this panel United States.
SCN4A Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SCN4A gene.
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Congenital Myopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Congenital Myopathy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Hyperkalemic Periodic Paralysis Type 1 Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the SCN4A gene.
More info about this panel Argentina.
SCN4A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN4A gene.
More info about this panel Spain.
SCN4A. Detection of the mutations p.Thr704Met and p.Met1592Val by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN4A gene.
More info about this panel Spain.
SCN4A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN4A gene.
More info about this panel Spain.
SCN4A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN4A gene.
More info about this panel Spain.
SCN4A. Detection of the mutations p.Arg669His, p.Arg672Ser, p.Arg672His, p.Arg672Gly, p.Arg672Cys and p.Arg1132Gln by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SCN4A gene.
More info about this panel Spain.
CACNA1S, SCN4A. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica CACNA1S, SCN4A. NextGeneDx. Complete sequencing by NGS that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
Hyperkalemic periodic paralysis type 2 (sequence analysis of SCN4A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes) Panel
Portugal.
By CGC Genetics Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes) that also includes the following genes: SCN4A CACNA1S
More info about this panel Portugal.
Myotonia, Potassium-Aggravated Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Hypokalemic periodic paralysis type 2 (sequence analysis of SCN4A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
SCN4A-Related Congenital Myasthenic Syndrome Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Potassium aggravated myotonia Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Paramyotonia Congenita of Von Eulenburg (sequence analysis of SCN4A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Paramyotonia congenita of Von Eulenburg (deletion/duplication analysis of SCN4A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SCN4A gene.
More info about this panel Portugal.
Myasthenic syndrome, congenital (NGS panel for 17genes) Panel
Portugal.
By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7
More info about this panel Portugal.
Non-dystrophic myotonias (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Portugal.
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via SCN4A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SCN4A gene.
More info about this panel United States.
Primary Periodic Paralysis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Periodic Paralysis Sequencing Panel with CNV Detection that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN4A SNAP25 STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Hypokaleimc Periodic Paralysis Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hypokaleimc Periodic Paralysis that also includes the following genes: SCN4A CACNA1S
More info about this panel Argentina.
Hyperkalemic Periodic Paralysis Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the SCN4A gene.
More info about this panel Argentina.
Paramyotonia Congenita of Von Eulenburg Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SCN4A gene.
More info about this panel Germany.
SCN4A-Related Congenital Myasthenic Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel
Germany.
By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5
More info about this panel Germany.
Myotonia, Potassium-Aggravated Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Hypokalemic Periodic Paralysis Type 2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Myotonia Panel
Germany.
By MGZ Medical Genetics Center Myotonia that also includes the following genes: SCN4A ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 CAVIN1
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Periodic Palsy Panel
Germany.
By MGZ Medical Genetics Center Periodic Palsy that also includes the following genes: RYR1 SCN4A CACNA1S KCNE3 KCNJ12 KCNJ2
More info about this panel Germany.
Newborn: Neonatal Apneas Panel
Germany.
By MGZ Medical Genetics Center Newborn: Neonatal Apneas that also includes the following genes: SCN4A SLC6A5 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ LAS1L GLRA1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
Myasthenic syndrome due to mutation in SCN4A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Paramyotonia congenita of von Eulenburg Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Congenital myasthenic syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital myasthenic syndrome panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 AGRN
More info about this panel Germany.
Hyperkalemic periodic paralysis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SCN4A 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.
Potassium-aggravated myotonia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Non-dystrophic myotonia congenita panel Panel
Germany.
By Centogene AG - the Rare Disease Company Non-dystrophic myotonia congenita panel that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Germany.
Myotonia Panel Panel
Germany.
By CeGaT GmbH Myotonia Panel that also includes the following genes: SCN4A CAV3 CLCN1 HINT1 ATP2A1
More info about this panel Germany.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
Single gene testing SCN4A Panel
Germany.
By CeGaT GmbH
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Bartter Syndrome incl. differential diagnosis Panel Panel
Germany.
By CeGaT GmbH Bartter Syndrome incl. differential diagnosis Panel that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNE3 KCNJ2 KCNJ5
More info about this panel Germany.
Periodic paralysis Panel Panel
Germany.
By CeGaT GmbH Periodic paralysis Panel that also includes the following genes: SCN4A CACNA1S KCNE3 KCNJ2 KCNJ5
More info about this panel Germany.
Metabolic Myopathy and Rhabdomyolysis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panel Estonia.
Familial Hypokalemic periodic paralysis, SCN4A sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SCN4A gene.
More info about this panel United States.
Hyperkalemic periodic paralysis, type 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SCN4A gene.
More info about this panel Austria.
Hypokalemic periodic paralysis Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SCN4A gene.
More info about this panel Austria.
Myasthenic syndrome, acetazolamide-responsive Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SCN4A gene.
More info about this panel Austria.
Paramyotonia congenita Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SCN4A gene.
More info about this panel Austria.
SCN4A Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the SCN4A gene.
More info about this panel Colombia.
Hyperkalemic Periodic Paralysis Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the SCN4A gene.
More info about this panel Italy.
Hypokalemic Periodic Paralysis Type 2 Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the SCN4A gene.
More info about this panel Italy.
Paramyotonia Congenita Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the SCN4A gene.
More info about this panel Italy.
Hyperkalemic periodic paralysis, type 2 Panel
Slovakia.
By MedGene
This panel specifically test the SCN4A gene.
More info about this panel Slovakia.
Hypokalemic periodic paralysis Panel
Slovakia.
By MedGene
This panel specifically test the SCN4A gene.
More info about this panel Slovakia.
Myasthenic syndrome, acetazolamide-responsive Panel
Slovakia.
By MedGene
This panel specifically test the SCN4A gene.
More info about this panel Slovakia.
Paramyotonia congenita Panel
Slovakia.
By MedGene
This panel specifically test the SCN4A gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Hypokalemic Periodic Paralysis Panel Panel
United States.
By Invitae Invitae Hypokalemic Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S KCNJ2
More info about this panel United States.
Invitae Hyperkalemic Periodic Paralysis Test Panel
United States.
By Invitae
This panel specifically test the SCN4A gene.
More info about this panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel United States.
Invitae Myotonia and Paramyotonia Congenita Panel Panel
United States.
By Invitae Invitae Myotonia and Paramyotonia Congenita Panel that also includes the following genes: SCN4A CLCN1
More info about this panel United States.
Hyperkalemic periodic Paralysis: SCN4A gene mutation analysis (L6891, I693T, T704M, A1156T, M1360V, 1495F, M1592V, F1490L, M1493I) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic periodic Paralysis: SCN4A gene mutation analysis (T704M) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic periodic Paralysis: SCN4A gene screening (exons 13, 19, 21-24) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hypokalemic / Hyperkalemic periodic Paralysis: SCN4A gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hypokalemic periodic Paralysis: SCN4A gene (exon 12), CACNA1S gene (exons 11, 30) screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypokalemic periodic Paralysis: SCN4A gene (exon 12), CACNA1S gene (exons 11, 30) screening that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
Paramyotonia congenita type Von Eulenburg: SCN4A gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Paramyotonia congenita type Von Eulenburg: SCN4A gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hypokalemic periodic Paralysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypokalemic periodic Paralysis that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Spain.
Congenital Myasthenic Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital Myasthenic that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Non-dystrophic myotonias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Spain.
Congenital Myasthenic Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Sequencing Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Deletion/Duplication Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
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.
Nuclear-Mito NGS Panel Panel
United States.
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 panel United States.
Congenital Myasthenic Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Myasthenic Syndrome NGS Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel United States.
SCN4A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SCN4A gene.
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.
Periodic Paralysis Panel Panel
Finland.
By Blueprint Genetics Periodic Paralysis Panel that also includes the following genes: SCN4A CACNA1S CLCN1 KCNJ2
More info about this panel Finland.
Congenital Myasthenic Syndromes Panel Panel
Finland.
By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1
More info about this panel Finland.
Central Hypoventilation and Apnea Panel Panel
Finland.
By Blueprint Genetics Central Hypoventilation and Apnea Panel that also includes the following genes: SCN4A SLC6A5 ZEB2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ EDN3
More info about this panel Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Metabolic Myopathy and Rhabdomyolysis Panel Panel
Finland.
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panel Finland.
Hyperkalemic periodic paralysis, type 2 Panel
Spain.
By Bioarray
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Paramyotonia congenita of Von Eulenburg Panel
Spain.
By Bioarray
This panel specifically test the SCN4A gene.
More info about this panel Spain.
PERIODIC PARALYSIS, HYPOKALEMIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC PARALYSIS, HYPOKALEMIC that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNJ2
More info about this panel Spain.
MYOTONIA CONGENITA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOTONIA CONGENITA NGS PANEL that also includes the following genes: SCN4A CACNA1S CAV3 CLCN1 HINT1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Spain.
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel Spain.
Paramyotonia Congenita of Von Eulenburg , Sequencing SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic Periodic Paralysis Type 2 , Sequencing SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hypokalemic Periodic Paralysis Type 2 , Sequencing SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic Periodic Paralysis , Mutation (T704M) SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic Periodic Paralysis, Sequencing Exons (3,19,21-24) SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Paramyotonia Congenita of Von Eulenburg , Sequencing Exon 12 SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyperkalemic Periodic Paralysis, Mutations (L6891, I693T, T704M, A1156T, M1360V, 1495F,M1592V, F1490L, M1493I) SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Paramyotonia Congenita of Von Eulenburg , Deletions-Duplications (MLPA) SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Hyper/Hypokalemic Periodic Paralysis , Deletion-Duplications (MLPA) SCN4A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SCN4A gene.
More info about this panel Spain.
Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Hypokalemic Periodic Paralysis , Panel Massive Sequencing (NGS) CACNA1S and SCN4A Genes Panel
Spain.
By Reference Laboratory Genetics Hypokalemic Periodic Paralysis , Panel Massive Sequencing (NGS) CACNA1S and SCN4A Genes that also includes the following genes: SCN4A CACNA1S
More info about this panel Spain.
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 HSPG2 KCNA1 KCNE3 ATP2A1
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
Spain.
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel Spain.
Paramyotonia congenita of von Eulenburg Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SCN4A gene.
More info about this panel Germany.
Hyperkalemic Periodic Paralysis: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SCN4A gene.
More info about this panel Canada.
Hypokalemic Periodic Paralysis: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hypokalemic Periodic Paralysis: gene sequencing panel that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Canada.
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