PMP22 gene related symptoms and diseases

All the information presented here about the PMP22 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PMP22 gene

Symptoms // Phenotype % Cases
Areflexia Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Decreased motor nerve conduction velocity Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PMP22 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Distal muscle weakness
  • Hammertoe
  • Distal amyotrophy
  • Distal sensory impairment
  • Motor delay
  • Skeletal muscle atrophy
  • Muscle weakness
  • Segmental peripheral demyelination/remyelination

And 133 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PMP22 gene

Here you will find a list of rare diseases related to the PMP22. 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

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Alternate names

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp, potato-grubbing palsy, polyneuropathy, familial recurrent, current pressure-sensitive neuropathy, heterozygous microdeletion 17p11.2p12, tulip-bulb digger's palsy, tomaculous neuropathy

Description

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

Most common symptoms of HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

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


More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

SOURCES: OMIM MESH ORPHANET

CHARCOT-MARIE-TOOTH DISEASE TYPE 1E

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 1E Is also known as charcot-marie-tooth disease-deafness syndrome, cmt1e

Description

Charcot-Marie-Tooth disease type 1E (CMT1E) represents a rare subtype of CMT1 (see this term) characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome; see these terms) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.


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

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

SOURCES: OMIM ORPHANET

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

Alternate names

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Is also known as charcot-marie-tooth disease, demyelinating, type 1e, cmt1e, charcot-marie-tooth neuropathy and deafness, autosomal dominant

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia


More info about CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia, hmsn ia, charcot-marie-tooth neuropathy, type 1a, hmsn1a, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Description

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

SOURCES: OMIM

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

SOURCES: MESH ORPHANET OMIM

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Alternate names

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute, aidp

Description

Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

Most common symptoms of GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

SOURCES: ORPHANET OMIM

HYPERREFLEXIA; HRX

Description

Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.

Most common symptoms of HYPERREFLEXIA; HRX

  • Microcephaly
  • Abnormality of retinal pigmentation
  • Ankle clonus


More info about HYPERREFLEXIA; HRX

SOURCES: MESH OMIM

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Alternate names

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form, aidp, acute inflammatory polyneuropathy, acute idiopathic demyelinating polyneuropathy, gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Description

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

Most common symptoms of ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

SOURCES: ORPHANET


Potential gene panels for PMP22 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, 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
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 - 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
United States.

Complete HNPP Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PMP22 gene.

More info about this panel
United States.

PMP22 Duplication/Deletion DNA Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PMP22 gene.

More info about this panel
United States.

PMP22 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PMP22 gene.

More info about this panel
United States.

Entrapment Neuropathy Evaluation Panel

United States.

By Athena Diagnostics Inc Entrapment Neuropathy Evaluation that also includes the following genes: TTR PMP22

More info about this panel
United States.

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
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 Demyelinating Panel

United States.

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
United States.

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

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 Disease Type 1A/HNPP (PMP22) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the PMP22 gene.

More info about this panel
United States.

Hereditary Neuropathy with Tendency to Pressure Palsies Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the PMP22 gene.

More info about this panel
Canada.

Charcot Marie Tooth type 1A Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the PMP22 gene.

More info about this panel
Canada.

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.

Ataxia Exome Panel Panel

United States.

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

More info about this panel
United States.

Charcot-Marie-Tooth Neuropathy Type 1A Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the PMP22 gene.

More info about this panel
New Zealand.

Hereditary Neuropathy with Liability to Pressure Palsies Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the PMP22 gene.

More info about this panel
New Zealand.

CMT Type1E, PMP22 Panel

Argentina.

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

This panel specifically test the PMP22 gene.

More info about this panel
Argentina.

Hereditary Neuropathy with Liability to Pressure Palsies (PMP22) Panel

Argentina.

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

This panel specifically test the PMP22 gene.

More info about this panel
Argentina.

Charcot Marie Tooth Type 1A Panel

Argentina.

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

This panel specifically test the PMP22 gene.

More info about this panel
Argentina.

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 Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the PMP22 gene.

More info about this panel
United States.

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.

Peripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Cyprus.

Peripheral Myelin Protein 22 (PMP22) gene sequencing test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Cyprus.

PMP22. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

PMP22. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

PMP22. Detection of large duplications by MLPA Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

PMP22. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PMP22 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.

PMP22. Detection of large deletions by MLPA Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Hereditary Neuropathy with Liability to Pressure Palsies Panel

Portugal.

By CGC Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Portugal.

Charcot-Marie-Tooth disease type 1A/HNPP (CMT1A/HNPP, deletion/duplication analysis of PMP22 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Portugal.

Charcot-Marie-Tooth disease type 1E (CMT1E, sequence analysis of PMP22 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PMP22 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.

PMP22-Related Neuropathies via PMP22 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PMP22 gene.

More info about this panel
United States.

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.

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 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.

Charcot-Marie-Tooth Type 1A Panel

Argentina.

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

This panel specifically test the PMP22 gene.

More info about this panel
Argentina.

Hereditary Neuropathy with Liability to Pressure Palsies Panel

Argentina.

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

This panel specifically test the PMP22 gene.

More info about this panel
Argentina.

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 1A Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Charcot-Marie-Tooth Neuropathy Type 1E Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Hereditary Neuropathy with Liability to Pressure Palsies Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PMP22 gene.

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 Neuropathy Type 1A/1E Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

hereditary neuropathy with pressure palsies Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

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
Germany.

CMT1A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

CMT1E Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Neuropathy with liability to pressure palsies [HNPP] Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Dejerine-Sottas disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PMP22 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.

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

Roussy-Levy syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PMP22 gene.

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.

Single gene testing PMP22 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

PMP22 - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the PMP22 gene.

More info about this panel
Netherlands.

Charcot-Marie-Tooth Neuropathy Type 1A Panel

Turkey.

By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS

This panel specifically test the PMP22 gene.

More info about this panel
Turkey.

Charcot-Marie-Tooth Neuropathy Type 1A Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Hereditary Neuropathy with Liability to Pressure Palsies Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP, PMP22 deletion) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Charcot-Marie-Tooth Neuropathy Type 1A (PMP22) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

Charcot-Marie-Tooth Neuropathy Type 1E (PMP22) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PMP22 gene.

More info about this panel
Germany.

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.

CMT/HNPP, PMP22 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PMP22 gene.

More info about this panel
United States.

CMT1A/HNPP, PMP22 del/dup (MLPA) Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PMP22 gene.

More info about this panel
United States.

Charcot-Marie-Tooth 1A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PMP22 gene.

More info about this panel
Austria.

Charcot-Marie-Tooth 1E Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PMP22 gene.

More info about this panel
Austria.

Neuropathy, hereditary, with liability to pressure palsies Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PMP22 gene.

More info about this panel
Austria.

Roussy-Levy syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PMP22 gene.

More info about this panel
Austria.

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel
Spain.

Charcot-Marie-Tooth 1A Panel

Slovakia.

By MedGene

This panel specifically test the PMP22 gene.

More info about this panel
Slovakia.

Charcot-Marie-Tooth 1E Panel

Slovakia.

By MedGene

This panel specifically test the PMP22 gene.

More info about this panel
Slovakia.

Neuropathy, hereditary, with liability to pressure palsies Panel

Slovakia.

By MedGene

This panel specifically test the PMP22 gene.

More info about this panel
Slovakia.

Roussy-Levy syndrome Panel

Slovakia.

By MedGene

This panel specifically test the PMP22 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 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 disease: PMP22 gene duplication analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Charcot Marie-Tooth disease: PMP22 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Neuropathy with liability to pressure palsies (HNPP), Hereditary: PMP22 gene deletion analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PMP22 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.

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

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.

PMP22 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PMP22 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 1A Panel

Spain.

By Bioarray

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Dejerine-Sottas syndrome Panel

Spain.

By Bioarray

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Hereditary neuropathy with liability to pressure palsies Panel

Spain.

By Bioarray

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Charcot-Marie-Tooth disease type 4E Panel

Spain.

By Bioarray

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel
United States.

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel
United States.

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

CHARCOT-MARIE-TOOTH DISEASE TYPE 1E Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

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

More info about this panel
Spain.

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

More info about this panel
Spain.

NEUROPATHY, TOMACULOUS (HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PMP22 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 Disease Type 1A, Sequencing PMP22 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PMP22 gene.

More info about this panel
Spain.

Hereditary Sensitive to Pressure Neuropathy , Sequencing PMP22 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PMP22 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.

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

More info about this panel
Spain.

Charcot Marie Tooth disease, type 1A Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the PMP22 gene.

More info about this panel
India.

Hereditary Neuropathy with Liability to Pressure Palsies: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PMP22 gene.

More info about this panel
Canada.

Hereditary Neuropathy with Liability to Pressure Palsies: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PMP22 gene.

More info about this panel
Canada.

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