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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM MESH

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Myotonia, Potassium-Aggravated Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN4A gene.

More info about this panel

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

SCN4A-Related Congenital Myasthenic Syndrome Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN4A gene.

More info about this panel

Potassium aggravated myotonia Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Paramyotonia Congenita of Von Eulenburg Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN4A gene.

More info about this panel

SCN4A-Related Congenital Myasthenic Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN4A gene.

More info about this panel

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

Myotonia, Potassium-Aggravated Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN4A gene.

More info about this panel

Hypokalemic Periodic Paralysis Type 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Hyperkalemic periodic paralysis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN4A gene.

More info about this panel

AllNeuro panel Panel

Germany.

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

More info about this panel

Potassium-aggravated myotonia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

Single gene testing SCN4A Panel

Germany.

By CeGaT GmbH

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

Hyperkalemic periodic paralysis, type 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN4A gene.

More info about this panel

Hypokalemic periodic paralysis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN4A gene.

More info about this panel

Myasthenic syndrome, acetazolamide-responsive Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN4A gene.

More info about this panel

Paramyotonia congenita Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

Hyperkalemic periodic paralysis, type 2 Panel

Slovakia.

By MedGene

This panel specifically test the SCN4A gene.

More info about this panel

Hypokalemic periodic paralysis Panel

Slovakia.

By MedGene

This panel specifically test the SCN4A gene.

More info about this panel

Myasthenic syndrome, acetazolamide-responsive Panel

Slovakia.

By MedGene

This panel specifically test the SCN4A gene.

More info about this panel

Paramyotonia congenita Panel

Slovakia.

By MedGene

This panel specifically test the SCN4A gene.

More info about this panel

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

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

Invitae Hyperkalemic Periodic Paralysis Test Panel

United States.

By Invitae

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

SCN4A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

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

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

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

Hyperkalemic periodic paralysis, type 2 Panel

Spain.

By Bioarray

This panel specifically test the SCN4A gene.

More info about this panel

Paramyotonia congenita of Von Eulenburg Panel

Spain.

By Bioarray

This panel specifically test the SCN4A gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Paramyotonia congenita of von Eulenburg Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SCN4A gene.

More info about this panel

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HADH MT-ND2 TGFBI

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more