MTMR2 gene related symptoms and diseases
All the information presented here about the MTMR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MTMR2 gene
Symptoms // Phenotype | % Cases |
---|---|
Scoliosis | Very Common - Between 80% and 100% cases |
Motor delay | Very Common - Between 80% and 100% cases |
Peripheral neuropathy | Very Common - Between 80% and 100% cases |
Talipes equinovarus | Very Common - Between 80% and 100% cases |
Proximal muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MTMR2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Facial palsy
- Distal muscle weakness
- Distal amyotrophy
- Distal sensory impairment
- Sensory neuropathy
- Decreased motor nerve conduction velocity
- Abnormal auditory evoked potentials
- Irregular myelin loops
Rare diseases associated to MTMR2 gene
Here you will find a list of rare diseases related to the MTMR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1 Is also known as cmt4b1, charcot-marie-tooth neuropathy, type 4b1, charcot-marie-tooth disease, type 4b, charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1, cmt4b
Description
Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1
- Scoliosis
- Motor delay
- Peripheral neuropathy
- Talipes equinovarus
- Proximal muscle weakness
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1
Search interest in MTMR2
Potential gene panels for MTMR2 gene
CMT Advanced Evaluation - Recessive, Demyelinating Panel
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By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive, Demyelinating that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 MTMR2 NDRG1
More info about this panel![](/img/flags/United-states.png)
CMT Advanced Evaluation - Comprehensive Panel
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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![](/img/flags/United-states.png)
CMT Advanced Evaluation - Demyelinating Panel
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By Athena Diagnostics Inc CMT Advanced Evaluation - Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panel![](/img/flags/United-states.png)
MTMR2 DNA Sequencing Test Panel
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By Athena Diagnostics Inc
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/United-states.png)
CMT Advanced Evaluation - Recessive Panel
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By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 LMNA MTMR2 NDRG1
More info about this panel![](/img/flags/United-states.png)
CMT Advanced Evaluation - Nonprevalent Panel
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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![](/img/flags/United-states.png)
CMT Advanced Evaluation - Nonprevalent Demyelinating Panel
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By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth Syndrome Panel
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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![](/img/flags/United-states.png)
Charcot Marie Tooth Panel Panel
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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![](/img/flags/Argentina.png.pagespeed.ce.A5m3fGLcik.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth Panel
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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![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
MTMR2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Charcot-Marie-Tooth disease type 4B1 (CMT4B1, sequence analysis of MTMR2 gene) Panel
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By CGC Genetics
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth Type 4B1 via MTMR2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease NGS panel Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Neuropathy Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Charcot-Marie-Tooth Neuropathy Type 4B1 Panel
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By MGZ Medical Genetics Center
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Charcot Marie Tooth Type 4 Panel Panel
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By FirmaLab Charcot Marie Tooth Type 4 Panel that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 MTMR2 NDRG1
More info about this panel![](/img/flags/United-states.png)
CMT4B1 Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
MTMR2 - Gene sequencing Panel
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By Clinical Genetics Academic Medical Center
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Charcot-Marie-Tooth Disease Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
qCarrier Plus Panel
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By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Comprehensive Neuropathies Panel Panel
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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![](/img/flags/United-states.png)
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
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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![](/img/flags/United-states.png)
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel
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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![](/img/flags/United-states.png)
Charcot Marie-Tooth type 4: deletions-duplications analysis (MLPA) Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CHARCOT- MARIE TOOTH Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Neuropathies: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Hereditary Neuropathies: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Hereditary Neuropathies NGS Panel Panel
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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![](/img/flags/United-states.png)
Charcot Marie Tooth Disease Extended NGS Panel Panel
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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![](/img/flags/United-states.png)
MTMR2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth Neuropathy Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Charcot-Marie-Tooth disease type 4B1 Panel
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By Bioarray
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1 Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CHARCOT-MARIE-TOOTH : NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Charcot-Marie-Tooth neuropathy demyelinating panel Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Charcot-Marie-Tooth Disease Type 4B1, Sequencing MTMR2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the MTMR2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Charcot-Marie-Tooth Disease Type 4 , Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,PRX,SH3TC2 Genes Panel
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By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,PRX,SH3TC2 Genes that also includes the following genes: PRX GDAP1 SBF2 SH3TC2 MTMR2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Panel
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By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SURF1 PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 HK1 MTMR2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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