MPZ gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MPZ gene

Symptoms // Phenotype % Cases
Areflexia Very Common - Between 80% and 100% cases
Distal amyotrophy Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Onion bulb formation
  • Pes cavus
  • Skeletal muscle atrophy
  • Not very common - Between 30% and 50% cases

  • Muscle weakness
  • Decreased number of peripheral myelinated nerve fibers
  • Decreased motor nerve conduction velocity
  • Peripheral neuropathy
  • Sensory impairment

And 100 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MPZ gene

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


DEJERINE-SOTTAS SYNDROME


Alternate names

DEJERINE-SOTTAS SYNDROME Is also known as hereditary motor and sensory neuropathy type iii, hmsn 3, hereditary motor and sensory neuropathy type 3, charcot-marie-tooth disease type 3, hmsn iii

Description

Dejerine-Sottas syndrome is a clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease (see this term) characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.


More info about DEJERINE-SOTTAS SYNDROME

SOURCES: ORPHANET

ROUSSY-LÉVY SYNDROME


Alternate names

ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type, roussy-levy syndrome

Most common symptoms of ROUSSY-LÉVY SYNDROME

  • Ataxia
  • Nystagmus
  • Motor delay
  • Tremor
  • Gait disturbance


More info about ROUSSY-LÉVY SYNDROME

SOURCES: OMIM ORPHANET

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS


Alternate names

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii, dsn, hmsn3, dss, dejerine-sottas syndrome, cmt3, charcot-marie-tooth disease, type 3, dejerine-sottas neuropathy

Description

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

Most common symptoms of HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B


Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B Is also known as cmt1b

Description

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Skeletal muscle atrophy


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

SOURCES: ORPHANET

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Alternate names

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b, charcot-marie-tooth neuropathy, type 1b, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b, hereditary motor and sensory neuropathy ib, hereditary motor and sensory neuropathy i, hmsn i, peroneal muscular atrop

Description

Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

SOURCES: OMIM

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J


Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J Is also known as charcot-marie-tooth neuropathy, type 2j, cmt2j, charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Dysphagia


More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I


Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I Is also known as charcot-marie-tooth neuropathy, axonal, type 2l, charcot-marie-tooth disease, axonal, autosomal dominant, type 2l, cmt2i

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.

Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I

  • Scoliosis
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness


More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I

SOURCES: ORPHANET OMIM

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I


Alternate names

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I Is also known as charcot-marie-tooth neuropathy, type 2i

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Areflexia
  • Hyporeflexia


More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E


Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E Is also known as charcot-marie-tooth disease, type 4e, hypomyelination, severe congenital, autosomal recessive congenital hypomyelinating neuropathy, cmt4e, charcot-marie-tooth neuropathy, type 4e

Description

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4E

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4E

SOURCES: ORPHANET MESH OMIM

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D


Alternate names

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as di-cmtd, cmtdid, charcot-marie-tooth neuropathy, dominant intermediate d

Description

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

Most common symptoms of AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

  • Skeletal muscle atrophy
  • Areflexia
  • Hyporeflexia
  • Distal muscle weakness
  • Distal amyotrophy


More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

SOURCES: ORPHANET OMIM

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN


Description

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.


More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN

SOURCES: ORPHANET


Potential gene panels for MPZ 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

CMT Advanced Evaluation - Dominant, Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant, Demyelinating that also includes the following genes: YARS LITAF DNM2 EGR2 MPZ PMP22

More info about this panel

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

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

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

CMT Advanced Evaluation - Demyelinating Panel

United States.

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

MPZ DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the MPZ gene.

More info about this panel

Congenital Hypomyelination Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Hypomyelination Evaluation that also includes the following genes: EGR2 MPZ

More info about this panel

CMT Advanced Evaluation - Initial Genetic Assessment Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Initial Genetic Assessment that also includes the following genes: MFN2 GJB1 MPZ PMP22

More info about this panel

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

Charcot-Marie-Tooth disease, type IB, 2I, 2J (MPZ) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth disease type 2I (MPZ) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the MPZ gene.

More info about this panel

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

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

Charcot Marie Tooth Type 2I/2J/1B Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the MPZ gene.

More info about this panel

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

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

United States.

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

More info about this panel

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

United States.

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

More info about this panel

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

Myelin Protein Zero (MPZ) gene sequencing test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the MPZ gene.

More info about this panel

MPZ. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MPZ gene.

More info about this panel

MPZ. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MPZ gene.

More info about this panel

MPZ. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MPZ gene.

More info about this panel

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

MPZ, MFN2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica MPZ, MFN2. MLPA testing that also includes the following genes: MFN2 MPZ

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MPZ. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth Disease type 1B/2I/2J (CMT1B/2I/2J, sequence analysis of MPZ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MPZ gene.

More info about this panel

MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy Panel

Portugal.

By CGC Genetics

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth disease type 1B/2A (CMT1B/CMT2A, deletion/duplication analysis of MPZ and MFN2 genes) Panel

Portugal.

By CGC Genetics Charcot-Marie-Tooth disease type 1B/2A (CMT1B/CMT2A, deletion/duplication analysis of MPZ and MFN2 genes) that also includes the following genes: MFN2 MPZ

More info about this panel

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

Portugal.

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

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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

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MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MPZ gene.

More info about this panel

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

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

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

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

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

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

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

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

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Charcot-Marie-Tooth Neuropathy Type 1B Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MPZ gene.

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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

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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

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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

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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

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Charcot-Marie-Tooth Neuropathy Type 1B Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth disease Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Charcot-Marie-Tooth disease that also includes the following genes: MFN2 GJB1 MPZ PMP22

More info about this panel

CMT1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

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CMT4E Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

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CMT2I Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

More info about this panel

CMT2J Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

More info about this panel

Dejerine-Sottas disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

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DI-CMTD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPZ gene.

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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

Charcot-Marie-Tooth disease Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

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

More info about this panel

Single gene testing MPZ Panel

Germany.

By CeGaT GmbH

This panel specifically test the MPZ gene.

More info about this panel

MPZ - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Type 1B (MPZ) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MPZ gene.

More info about this panel

MPZ-related Neuropathy Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Type 2I/2J (MPZ) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MPZ gene.

More info about this panel

MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth Disease Panel

Estonia.

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

More info about this panel

CMT, MPZ sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth 1B Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MPZ gene.

More info about this panel

MPZ Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the MPZ gene.

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MPZ Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth 1B Panel

Slovakia.

By MedGene

This panel specifically test the MPZ gene.

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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

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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

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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

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Charcot Marie-Tooth disease: MFN2 and MPZ genes deletion-duplication analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Charcot Marie-Tooth disease: MFN2 and MPZ genes deletion-duplication analysis (MLPA) that also includes the following genes: MFN2 MPZ

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Charcot Marie-Tooth disease: MPZ gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MPZ gene.

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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

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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

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Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

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

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Hereditary Neuropathies NGS Panel Panel

United States.

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

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Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

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Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

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

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MPZ Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

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

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Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

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Charcot-Marie-Tooth disease type 4E Panel

Spain.

By Bioarray

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth neuropathy type 2I Panel

Spain.

By Bioarray

This panel specifically test the MPZ gene.

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Dejerine-Sottas syndrome Panel

Spain.

By Bioarray

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth neuropathy type 2J Panel

Spain.

By Bioarray

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth type 1B Panel

Spain.

By Bioarray

This panel specifically test the MPZ gene.

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CHARCOT-MARIE-TOOTH DISEASE TYPE 2I / 2J Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MPZ gene.

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CHARCOT-MARIE-TOOTH DISEASE TYPE 1B Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MPZ gene.

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AREFLEXIC DYSTASIA, ROUSSY-LÉVY TYPE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MPZ gene.

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CHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME) that also includes the following genes: PRX EGR2 MPZ PMP22

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DEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3) Panel

Spain.

By Laboratorio de Genetica Clinica SL DEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3) that also includes the following genes: PRX EGR2 MPZ PMP22

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NEUROPATHY CONGENITAL HYPOMYELINATING Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MPZ gene.

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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

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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

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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

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Charcot-Marie-Tooth Disease Type 1B, Sequencing MPZ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPZ gene.

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Roussy-Levy Syndrome , Sequencing MPZ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth Disease Type 2J , Sequencing MPZ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPZ gene.

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Charcot-Marie-Tooth Disease Type 2I , Sequencing MPZ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPZ gene.

More info about this panel

Charcot-Marie-Tooth Disease, Deletions-Duplications (MLPA) MPZ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPZ gene.

More info about this panel

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

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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

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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

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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

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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

Dejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes Panel

Spain.

By Reference Laboratory Genetics Dejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes that also includes the following genes: PRX EGR2 MPZ PMP22

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