NEFL gene related symptoms and diseases
All the information presented here about the NEFL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NEFL gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Hyporeflexia | Common - Between 50% and 80% cases |
| Muscle weakness | Common - Between 50% and 80% cases |
| Distal muscle weakness | Common - Between 50% and 80% cases |
| Motor delay | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NEFL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Peripheral neuropathy
- Skeletal muscle atrophy
- Pes cavus
- Distal sensory impairment
- Areflexia
Not very common - Between 30% and 50% cases
- Hearing impairment
- Limb muscle weakness
- Distal amyotrophy
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEFL gene
Here you will find a list of rare diseases related to the NEFL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG
Description
CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Nystagmus
- Muscle weakness
More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG
SOURCES: OMIM
CHARCOT-MARIE-TOOTH DISEASE TYPE 1F
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 1F Is also known as cmt1f
Description
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1F
SOURCES: ORPHANET
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a, microduplication 17p12, charcot-marie-tooth neuropathy, type 1f
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
- Intellectual disability
- Generalized hypotonia
- Muscle weakness
- Motor delay
- Peripheral neuropathy
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e, charcot-marie-tooth neuropathy, type 2e
Description
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Muscle weakness
- Ptosis
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B5
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B5 Is also known as ar-cmt2b5, severe early-onset axonal neuropathy due to nefl deficiency, seoan due to nefl deficiency, severe early-onset axonal neuropathy due to light neurofilament subunit deficiency, autosomal recessive charcot-marie-tooth disease type 2b5
Description
Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2B5
SOURCES: ORPHANET
Search interest in NEFL
Potential gene panels for NEFL 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.
Neurofilament Light (NFL) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the NEFL 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.
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.
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.
NEFL Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NEFL gene.
More info about this panel Germany.
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 disease, type 2E Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the NEFL 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.
Charcot-Marie-Tooth Panel
Switzerland.
By Human Genetics University Hospital Bern Charcot-Marie-Tooth that also includes the following genes: YARS PRX BSCL2 GDAP1 LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2
More info about this panel Switzerland.
Neurofilament-light (NEFL) gene sequencing test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the NEFL gene.
More info about this panel Cyprus.
NEFL. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NEFL gene.
More info about this panel Spain.
NEFL. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NEFL gene.
More info about this panel Spain.
DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS that also includes the following genes: PRX GDAP1 MFN2 DNM2 GARS GJB1 MPZ MTMR2 NEFL PMP22
More info about this panel Spain.
Charcot-Marie-Tooth Neuropathy Type 1F/2E (sequence analysis of NEFL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NEFL 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 type 2E (CMT2E, sequence analysis of NEFL gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NEFL gene.
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 - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1
More info about this panel United States.
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.
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.
Charcot-Marie-Tooth Type 2E/1F via NEFL Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NEFL gene.
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.
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 1F/2E Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the NEFL gene.
More info about this panel Germany.
Charcot-Marie-Tooth Neuropathy Type 2E/1F Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the NEFL gene.
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Charcot Marie Tooth Type 1 Panel Panel
United States.
By FirmaLab Charcot Marie Tooth Type 1 Panel that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22
More info about this panel United States.
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.
CMT1F Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NEFL gene.
More info about this panel Germany.
CMT2E Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NEFL 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.
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.
NEFL - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the NEFL gene.
More info about this panel Netherlands.
Charcot-Marie-Tooth Neuropathy Type 1F/2E (NEFL) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the NEFL gene.
More info about this panel Germany.
Charcot-Marie-Tooth Neuropathy Type 2E/1F (NEFL) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the NEFL gene.
More info about this panel Germany.
Charcot-Marie-Tooth 1F Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NEFL gene.
More info about this panel Austria.
NEFL Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the NEFL gene.
More info about this panel Austria.
Charcot-Marie-Tooth 1F Panel
Slovakia.
By MedGene
This panel specifically test the NEFL gene.
More info about this panel Slovakia.
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 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 Recessive Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel that also includes the following genes: SPG11 PRX GDAP1 TRIM2 FIG4 MFN2 FGD4 SBF2 LRSAM1 MED25
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 type 4: deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Charcot Marie-Tooth type 4: deletions-duplications analysis (MLPA) that also includes the following genes: PRX GDAP1 SBF2 SH3TC2 EGR2 MTMR2 NEFL
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.
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.
NEFL Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEFL 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.
Charcot-Marie-Tooth type 1F Panel
Spain.
By Bioarray
This panel specifically test the NEFL gene.
More info about this panel Spain.
Charcot-Marie-Tooth neuropathy type 2E Panel
Spain.
By Bioarray
This panel specifically test the NEFL gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 1F Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NEFL gene.
More info about this panel Spain.
CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NEFL 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.
Charcot-Marie-Tooth neuropathy demyelinating panel Panel
Canada.
By LifeLabs Genetics Charcot-Marie-Tooth neuropathy demyelinating panel that also includes the following genes: PRX LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2 EGR2 GJB1 MPZ
More info about this panel Canada.
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 1F, Sequencing NEFL Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NEFL 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 1 ,Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUCLA2