SCN9A gene related symptoms and diseases

All the information presented here about the SCN9A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SCN9A gene

Symptoms // Phenotype % Cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Absence seizures Rare - less than 30% cases
Abnormal autonomic nervous system physiology Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with SCN9A gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Febrile seizures
  • Focal-onset seizure
  • Generalized tonic-clonic seizures
  • Pain
  • Fever
  • Atonic seizures
  • Erythema
  • Painless fractures due to injury

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SCN9A gene

Here you will find a list of rare diseases related to the SCN9A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN


Alternate names

CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN Is also known as channelopathy-associated cip


More info about CHANNELOPATHY-ASSOCIATED CONGENITAL INSENSITIVITY TO PAIN

SOURCES: ORPHANET

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP


Alternate names

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive, insensitivity to pain, channelopathy-associated, asymbolia for pain

Description

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

Most common symptoms of INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

SOURCES: OMIM

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2


Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 Is also known as hsan2, autosomal recessive sensory radicular neuropathy, hereditary sensory and autonomic neuropathy type ii, neurogenic acroosteolysis

Description

Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

  • Skeletal muscle atrophy
  • Hyperhidrosis
  • Hyperlordosis
  • Tapered finger
  • Abnormality of epiphysis morphology


More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2

SOURCES: ORPHANET

MORVAN SYNDROME


Alternate names

MORVAN SYNDROME Is also known as limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome, morvan's fibrillary chorea

Description

Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.

Most common symptoms of MORVAN SYNDROME

  • Decreased nerve conduction velocity
  • Anhidrosis
  • Painless fractures due to injury


More info about MORVAN SYNDROME

SOURCES: ORPHANET

PRIMARY ERYTHERMALGIA


Alternate names

PRIMARY ERYTHERMALGIA Is also known as erythromelalgia, primary, erythromelalgia, familial

Description

Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.

Most common symptoms of PRIMARY ERYTHERMALGIA

  • Pain
  • Peripheral neuropathy
  • Diarrhea
  • Constipation
  • Hyperhidrosis


More info about PRIMARY ERYTHERMALGIA

SOURCES: ORPHANET OMIM

DRAVET SYNDROME


Alternate names

DRAVET SYNDROME Is also known as smei, severe myoclonus epilepsy of infancy, ds, severe myoclonic epilepsy of infancy, dravet syndrome

Description

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

Most common symptoms of DRAVET SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


More info about DRAVET SYNDROME

SOURCES: OMIM ORPHANET

PAROXYSMAL EXTREME PAIN DISORDER


Alternate names

PAROXYSMAL EXTREME PAIN DISORDER Is also known as rectal pain, familial, pexpd, pepd, pain, submandibular, ocular, and rectal, with flushing, familial rectal pain

Description

Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.

Most common symptoms of PAROXYSMAL EXTREME PAIN DISORDER

  • Seizures
  • Pain
  • Motor delay
  • Peripheral neuropathy
  • Constipation


More info about PAROXYSMAL EXTREME PAIN DISORDER

SOURCES: ORPHANET MESH OMIM

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS


Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1

Description

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

  • Intellectual disability
  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures


More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

SOURCES: OMIM ORPHANET MESH

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7


Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 Is also known as gefs+7, gefs+, type 7

Description

Mutations in the SCN9A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 7, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999).Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

  • Seizures
  • Generalized tonic-clonic seizures
  • Focal-onset seizure
  • Febrile seizures
  • Absence seizures


More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7

SOURCES: OMIM MESH

ERYTHROMELALGIA


Description

Erythromelalgia is a rare, genetic, peripheral neuropathy characterized by usually intermittent, often bilateral and symmetrical, paroxysmal hyperthermia of the extremities resulting in intense burning sensation, pain, elevated skin temperature, erythema, edema and numbness, which typically worsens with hot environments, exercise, and/or nighttime. Lower limbs are more commonly involved than upper ones, but face and trunk involvement have also been observed.

Most common symptoms of ERYTHROMELALGIA

  • Peripheral neuropathy
  • Recurrent respiratory infections
  • Erythema
  • Leukemia
  • Pruritus


More info about ERYTHROMELALGIA

SOURCES: ORPHANET

SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY


Description

Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.


More info about SODIUM CHANNELOPATHY-RELATED SMALL FIBER NEUROPATHY

SOURCES: ORPHANET


Potential gene panels for SCN9A 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

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

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1

More info about this panel

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

SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the SCN9A gene.

More info about this panel

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

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

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

SCN9A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCN9A gene.

More info about this panel

SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2

More info about this panel

SCN9A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCN9A gene.

More info about this panel

SCN9A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SCN9A gene.

More info about this panel

Primary Erythromelalgia (sequence analysis of SCN9A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN9A gene.

More info about this panel

Epilepsy, generalized, with febrile seizures plus, type 7 (sequence analysis of SCN9A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN9A gene.

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel

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

Paroxysmal extreme pain disorder (sequence analysis of SCN9A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SCN9A gene.

More info about this panel

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

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

Episodic Pain Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Episodic Pain Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN10A SCN11A SCN9A

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1

More info about this panel

Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via SCN9A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SCN9A gene.

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX

More info about this panel

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

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

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

SCN9A-Related Inherited Erythromelalgia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN9A gene.

More info about this panel

SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN9A gene.

More info about this panel

Congenital Indifference to Pain, Autosomal Recessive Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN9A gene.

More info about this panel

Paroxysmal Extreme Pain Disorder Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SCN9A gene.

More info about this panel

Epileptic encephalopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel that also includes the following genes: SCN1A SCN1B SCN2A SCN9A PCDH19 ADGRV1 CLCN2 TBC1D24 GABRD GABRG2

More info about this panel

Generalized epilepsy with febrile seizures plus type 7 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN9A gene.

More info about this panel

Erythermalgia, primary Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN9A gene.

More info about this panel

Hereditary sensory and autonomic neuropathy type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN9A gene.

More info about this panel

Insensitivity to pain, channelopathy-associated Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN9A 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

Dravet syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SCN9A gene.

More info about this panel

Congenital Indifference to Pain, Autosomal Recessive Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the SCN9A gene.

More info about this panel

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

Neuropathic Pain Syndromes Panel Panel

Germany.

By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel

Single gene testing SCN9A Panel

Germany.

By CeGaT GmbH

This panel specifically test the SCN9A gene.

More info about this panel

Dravet syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Dravet syndrome that also includes the following genes: SCN1A SCN2A SCN9A STXBP1 PCDH19 GABRA1 GABRG2

More info about this panel

Generalized epilepsy with febrile seizures plus Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Generalized epilepsy with febrile seizures plus that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRD GABRG2

More info about this panel

SCN9A Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the SCN9A gene.

More info about this panel

Charcot-Marie-Tooth Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7

More info about this panel

Epilepsy, generalized with febrile seizures plus, type 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Febrile seizures, familial, 3b Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Erythermalgia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Insensitivity to pain, channelopathy-associated Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Paroxysmal extreme pain disorder Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Small fiber neuropathy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SCN9A gene.

More info about this panel

Epilepsy, generalized with febrile seizures plus, type 7 Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Erythermalgia Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Febrile seizures, familial, 3b Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Insensitivity to pain, channelopathy-associated Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Paroxysmal extreme pain disorder Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Small fiber neuropathy Panel

Slovakia.

By MedGene

This panel specifically test the SCN9A gene.

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

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

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1

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Invitae Early Infantile Epileptic Encephalopathy Panel Panel

United States.

By Invitae Invitae Early Infantile Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN2A SCN8A SCN9A SLC2A1 SLC35A2 SLC6A1 SMC1A SPTAN1 CDKL5

More info about this panel

Invitae Small Fiber Neuropathy Test Panel

United States.

By Invitae

This panel specifically test the SCN9A gene.

More info about this panel

Erythromelalgia: SCN9A gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SCN9A gene.

More info about this panel

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A

More info about this panel

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

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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

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

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

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

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Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

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Hereditary Neuropathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2

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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

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Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1

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SCN9A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCN9A gene.

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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

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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

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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

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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

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Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

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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

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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

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Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type VII Panel

Spain.

By Bioarray

This panel specifically test the SCN9A gene.

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Erythermalgia, primary Panel

Spain.

By Bioarray

This panel specifically test the SCN9A gene.

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SCN9A 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 SCN9A gene.

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FAMILIAL ERYTHROMELALGIA OR ERYTHERMALGIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SCN9A gene.

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EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS Panel

Spain.

By Laboratorio de Genetica Clinica SL EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS that also includes the following genes: SCN1A SCN1B SCN2A SCN9A GABRG2 GABRG3

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PAROXYSMAL EXTREME PAIN DISORDER Panel

Spain.

By Laboratorio de Genetica Clinica SL PAROXYSMAL EXTREME PAIN DISORDER that also includes the following genes: SCN10A SCN11A SCN9A

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PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19

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Small Fiber Neuropathy , Sequencing SCN9A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SCN9A gene.

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Erythromelalgia , Sequencing SCN9A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SCN9A gene.

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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

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Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SCN1A SCN1B SCN9A GABRD GABRG2

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Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

By Reference Laboratory Genetics Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 NHLRC1 EPM2A GABRA1

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Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1

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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

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Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A Panel

Spain.

By Reference Laboratory Genetics Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A that also includes the following genes: SCN10A SCN9A TRPA1

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Paroxysmal extreme pain disorder Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SCN9A gene.

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Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel that also includes the following genes: SCN9A WNK1 RETREG1 KIF1A

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SCN9A-Related Inherited Erythromelalgia: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SCN9A gene.

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