HSPB1 gene related symptoms and diseases
All the information presented here about the HSPB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HSPB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Peripheral neuropathy | Very Common - Between 80% and 100% cases |
| Decreased motor nerve conduction velocity | Common - Between 50% and 80% cases |
| Split hand | Common - Between 50% and 80% cases |
| EMG: neuropathic changes | Common - Between 50% and 80% cases |
| Hyporeflexia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HSPB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pes cavus
- Difficulty walking
- Distal muscle weakness
- Muscle weakness
- Foot dorsiflexor weakness
- Distal amyotrophy
Not very common - Between 30% and 50% cases
- Chronic axonal neuropathy
- Upper limb amyotrophy
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HSPB1 gene
Here you will find a list of rare diseases related to the HSPB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f, charcot-marie-tooth disease, neuronal, type 2f, cmt2f
Description
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F
- Hearing impairment
- Pain
- Peripheral neuropathy
- Talipes equinovarus
- Areflexia
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2
Alternate names
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2 Is also known as hmnj, dhmn2, distal spinal muscular atrophy type 2, neuronopathy, distal hereditary motor, jerash type, neuropathy, distal hereditary motor, jerash type, dsma2, spinal muscular atrophy, jerash type
Description
Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).
Most common symptoms of DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2
- Muscle weakness
- Peripheral neuropathy
- Skeletal muscle atrophy
- Hyporeflexia
- Babinski sign
More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
Alternate names
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B Is also known as neuropathy, distal hereditary motor, type iib, dhmn2b, hmn iib
Most common symptoms of NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
- Muscle weakness
- Peripheral neuropathy
- Diabetes mellitus
- Difficulty walking
- Paralysis
More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
Search interest in HSPB1
Potential gene panels for HSPB1 gene
CMT Advanced Evaluation - Dominant Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant that also includes the following genes: YARS LITAF MFN2 TRPV4 DNM2 HSPB8 EGR2 GARS HSPB1 MPZ
More info about this panel United States.
CMT Advanced Evaluation - Dominant, Axonal Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant, Axonal that also includes the following genes: YARS MFN2 TRPV4 DNM2 HSPB8 GARS HSPB1 LMNA MPZ NEFL
More info about this panel United States.
CMT Advanced Evaluation - Comprehensive Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Comprehensive that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 MFN2 TRPV4 FGD4 SBF2 SH3TC2
More info about this panel United States.
CMT Advanced Evaluation - Axonal Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Axonal that also includes the following genes: YARS GDAP1 MFN2 TRPV4 DNM2 HSPB8 GARS GJB1 HSPB1 LMNA
More info about this panel United States.
HSPB1 (CMT2F) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the HSPB1 gene.
More info about this panel United States.
CMT Advanced Evaluation - Nonprevalent Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 TRPV4 FGD4 SBF2 SH3TC2 DNM2
More info about this panel United States.
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation that also includes the following genes: UBA1 VRK1 BICD2 TRPV4 DYNC1H1 HSPB8 GARS HSPB1 HSPB3 IGHMBP2
More info about this panel United States.
CMT Advanced Evaluation - Nonprevalent Axonal Panel
United States.
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent Axonal that also includes the following genes: YARS GDAP1 TRPV4 DNM2 HSPB8 GARS GJB1 HSPB1 LMNA NEFL
More info about this panel United States.
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
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.
Charcot-Marie-Tooth Syndrome Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panel United States.
Charcot Marie Tooth Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Argentina.
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.
HSPB1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HSPB1 gene.
More info about this panel Spain.
Charcot-Marie-Tooth disease type 2F (CMT2F, sequence analysis of HSPB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HSPB1 gene.
More info about this panel Portugal.
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 Portugal.
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panel Portugal.
Charcot-Marie-Tooth Neuropathy Type 2F Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the HSPB1 gene.
More info about this panel Belgium.
Distal Hereditary Motor Neuronopathy, Type IIB Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the HSPB1 gene.
More info about this panel Belgium.
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel United States.
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
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.
Heat Shock 27 kDa Protein-Related Disorders via HSPB1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HSPB1 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.
Atrial fibrillation Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Deletion / Duplication test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrial fibrillation Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Comprehensive test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrial fibrillation NGS test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation NGS test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Charcot-Marie-Tooth disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
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.
Charcot-Marie-Tooth Neuropathy Type 2F Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the HSPB1 gene.
More info about this panel Germany.
Distal Hereditary Motor Neuronopathy, Type IIB Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the HSPB1 gene.
More info about this panel Germany.
Charcot Marie Tooth Type 2 Panel Panel
United States.
By FirmaLab Charcot Marie Tooth Type 2 Panel that also includes the following genes: YARS GDAP1 KIF1B MFN2 TRPV4 AARS MED25 DNM2 HSPB8 GARS
More info about this panel United States.
CMT2F Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HSPB1 gene.
More info about this panel Germany.
Neuronopathy distal hereditary motor type IIB Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HSPB1 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.
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.
Spinal Muscular Atrophy Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panel Germany.
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 Germany.
Spinal Muscular Atrophy (SMA) Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panel Germany.
HSPB1 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the HSPB1 gene.
More info about this panel Netherlands.
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.
HSPB1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the HSPB1 gene.
More info about this panel Austria.
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 United States.
Invitae Hereditary Motor Neuropathy Panel Panel
United States.
By Invitae Invitae Hereditary Motor Neuropathy Panel that also includes the following genes: SMN1 SMN2 UBA1 VAPB SLC5A7 CHCHD10 BSCL2 BICD2 TRPV4 REEP1
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2
More info about this panel United States.
Charcot-Marie-Tooth: Sequencing HSPB1 gene Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HSPB1 gene.
More info about this panel Spain.
CHARCOT- MARIE TOOTH Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
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 United States.
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
More info about this panel United States.
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
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.
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
More info about this panel United States.
HSPB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HSPB1 gene.
More info about this panel United States.
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.
Spinal Muscular Atrophy Panel Panel
Finland.
By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2
More info about this panel Finland.
Charcot-Marie-Tooth neuropathy type 2F Panel
Spain.
By Bioarray
This panel specifically test the HSPB1 gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HSPB1 gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2
More info about this panel Spain.
NEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURONOPATHY, DISTAL HEREDITARY NGS PANEL that also includes the following genes: SLC5A7 BSCL2 MFN2 TRPV4 REEP1 DCTN1 FBXO38 HSPB8 GARS HINT1
More info about this panel Spain.
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel Panel
Canada.
By LifeLabs Genetics Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel that also includes the following genes: SLC12A6 YARS ARHGEF10 GDAP1 KIF1B MFN2 TRPV4 AARS MED25 DYNC1H1
More info about this panel Canada.
Charcot-Marie-Tooth Disease Type 2F, Sequencing HSPB1Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HSPB1 gene.
More info about this panel Spain.
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
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.
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8
More info about this panel Spain.
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