SETX gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to SETX gene

Symptoms // Phenotype % Cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Pes cavus Very Common - Between 80% and 100% cases
Abnormal pyramidal sign Very Common - Between 80% and 100% cases
Distal muscle weakness Very Common - Between 80% and 100% cases
Sensory impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SETX gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Babinski sign
  • Skeletal muscle atrophy
  • Not very common - Between 30% and 50% cases

  • Sensorimotor neuropathy
  • Premature ovarian insufficiency
  • Hypoalbuminemia
  • Slurred speech
  • Hypercholesterolemia
  • Oculomotor apraxia

And 71 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SETX gene

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


AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Alternate names

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4, neuronopathy, distal hereditary motor, with pyramidal features, distal hereditary motor neuropathy with upper motor neuron signs, dhmn with upper motor neuron signs

Description

Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign


More info about AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

SOURCES: MESH OMIM ORPHANET

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Alternate names

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2, scan 2, scar1, ataxia-ocular apraxia 2, aoa2, ataxia-oculomotor apraxia type 2

Description

Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

Most common symptoms of SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

SOURCES: OMIM ORPHANET


Potential gene panels for SETX gene

Amyotrophic Lateral Sclerosis Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Amyotrophic Lateral Sclerosis Advanced Evaluation that also includes the following genes: SOD1 SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1

More info about this panel
United States.

Oculomotor Apraxia Ataxia Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Oculomotor Apraxia Ataxia Advanced Sequencing Evaluation that also includes the following genes: APTX SETX

More info about this panel
United States.

Ataxia, Supplemental Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Supplemental Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel
United States.

Ataxia, Complete Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel
United States.

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

More info about this panel
United States.

Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation that also includes the following genes: SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1 FUS

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.

Amyotrophic Lateral Sclerosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel
United States.

Dementia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the SETX gene.

More info about this panel
Switzerland.

ATAXIA-OCULOMOTOR APRAXIA 2; AOA2 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the SETX gene.

More info about this panel
Switzerland.

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
United States.

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
United States.

SETX. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SETX gene.

More info about this panel
Spain.

SETX. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SETX gene.

More info about this panel
Spain.

Amyotrophic Lateral Sclerosis (deletion/duplication analysis of SETX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SETX gene.

More info about this panel
Portugal.

Amyotrophic lateral sclerosis 4, juvenile (sequence analysis of SETX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SETX gene.

More info about this panel
Portugal.

Ataxia-ocular apraxia 2 (AOA2, sequence analysis of SETX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SETX gene.

More info about this panel
Portugal.

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel
Portugal.

Amyotrophic lateral sclerosis (deletion/duplication analysis on SETX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SETX gene.

More info about this panel
Portugal.

Amyotrophic lateral sclerosis 4, juvenile (sequence analysis of SETX gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SETX gene.

More info about this panel
Portugal.

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2

More info about this panel
United States.

Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ataxia with Oculomotor Apraxia Sequencing Panel with CNV Detection that also includes the following genes: APTX PIK3R5 SETX

More info about this panel
United States.

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SYT2 SLC5A7 BSCL2 BICD2 TRPV4 AARS LAS1L REEP1 DCTN1 FBXO38

More info about this panel
United States.

Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via SETX Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SETX gene.

More info about this panel
United States.

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
United States.

Amyotrophic lateral sclerosis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Comprehensive panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Amyotrophic lateral sclerosis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel
United States.

Distal hereditary motor neuropathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders NGS panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel
United States.

Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal hereditary motor neuropathy and related disorders Comprehensive panel that also includes the following genes: SLC5A7 BSCL2 BICD2 TRPV4 DCAF8 REEP1 DCTN1 FBXO38 PLEKHG5 DYNC1H1

More info about this panel
United States.

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
Germany.

Ataxia with Oculomotor Apraxia 2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SETX gene.

More info about this panel
Germany.

SETX-Related Amyotrophic Lateral Sclerosis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SETX gene.

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3

More info about this panel
Germany.

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

More info about this panel
Germany.

Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2

More info about this panel
Germany.

SETX Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the SETX gene.

More info about this panel
Netherlands.

Ataxia (AD/AR) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Ataxia (AD/AR) panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP CACNA1A APTX AFG3L2 FGF14 FXN SETX

More info about this panel
Netherlands.

FTD - ALS panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht FTD - ALS panel that also includes the following genes: SMPD1 SOD1 TARDBP VAPB VCP NPC2 FIG4 CHMP2B FUS ALS2

More info about this panel
Netherlands.

Amyotrophic lateral sclerosis type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SETX gene.

More info about this panel
Germany.

Ataxia-oculomotor apraxia type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SETX 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.

ALS panel Panel

Germany.

By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel
Germany.

Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel
United States.

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel
United States.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Single gene testing SETX Panel

Germany.

By CeGaT GmbH

This panel specifically test the SETX gene.

More info about this panel
Germany.

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel
Germany.

SETX - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the SETX gene.

More info about this panel
Netherlands.

Amyotrophic lateral sclerosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN

More info about this panel
Poland.

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

More info about this panel
Estonia.

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
Estonia.

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel
Estonia.

Amyotrophic Lateral Sclerosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel
Estonia.

Amyotrophic lateral sclerosis 04 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SETX gene.

More info about this panel
Austria.

Ataxia with Oculomotor Apraxia 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SETX gene.

More info about this panel
Austria.

Autosomal dominant proximal spinal muscular atrophy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SETX gene.

More info about this panel
Austria.

Spinocerebellar Ataxia, autosomal recessive 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SETX gene.

More info about this panel
Austria.

Amyotrophic lateral sclerosis 04 Panel

Slovakia.

By MedGene

This panel specifically test the SETX gene.

More info about this panel
Slovakia.

Ataxia with Oculomotor Apraxia 2 Panel

Slovakia.

By MedGene

This panel specifically test the SETX gene.

More info about this panel
Slovakia.

Autosomal dominant proximal spinal muscular atrophy Panel

Slovakia.

By MedGene

This panel specifically test the SETX gene.

More info about this panel
Slovakia.

Spinocerebellar Ataxia, autosomal recessive 1 Panel

Slovakia.

By MedGene

This panel specifically test the SETX gene.

More info about this panel
Slovakia.

AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. that also includes the following genes: SOD1 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2 SETX

More info about this panel
Spain.

Ataxia with oculomotor apraxia type 2: SETX gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SETX gene.

More info about this panel
Spain.

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel
Spain.

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel
Spain.

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel
Netherlands.

Ataxia with Oculomotor Apraxia Type 2: SETX Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SETX gene.

More info about this panel
United States.

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN

More info about this panel
United States.

Distal Hereditary Motor Neuropathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Distal Hereditary Motor Neuropathy NGS Panel that also includes the following genes: SLC5A7 BSCL2 FIG4 TRPV4 REEP1 DCTN1 MEGF10 DNMT1 HSPB8 GAN

More info about this panel
United States.

SETX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SETX gene.

More info about this panel
United States.

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel
Finland.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel
Finland.

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

More info about this panel
Finland.

Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

More info about this panel
Finland.

Spinocerebellar ataxia with axonal neuropathy type 2 Panel

Spain.

By Bioarray

This panel specifically test the SETX gene.

More info about this panel
Spain.

ATAXIA-OCULOMOTOR APRAXIA TYPE 2 (AOA2) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SETX gene.

More info about this panel
Spain.

AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) that also includes the following genes: SOD1 SQSTM1 TARDBP VAPB VCP CHCHD10 FIG4 CHMP2B DCTN1 C9orf72

More info about this panel
Spain.

AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10

More info about this panel
Spain.

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel
Spain.

Ataxia with Oculomotor Apraxia Type 2, Sequencing SETX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SETX gene.

More info about this panel
Spain.

Juvenile Amyotrophic Lateral Sclerosis Type 4 , Sequencing SETX (ALS4) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SETX gene.

More info about this panel
Spain.

Juvenile Amyotrophic Lateral Sclerosis Type 4 , Deletions-Duplications (MLPA) SETX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SETX gene.

More info about this panel
Spain.

Ataxia with Oculomotor Apraxia Type 2, Deletions-Duplications (MLPA) SETX Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SETX gene.

More info about this panel
Spain.

Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SOD1 SPG11 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2

More info about this panel
Spain.

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A

More info about this panel
Spain.

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

More info about this panel
Spain.

Ataxia with Oculomotor Apraxia , Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia with Oculomotor Apraxia , Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes that also includes the following genes: APTX PIK3R5 SETX

More info about this panel
Spain.

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