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
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
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
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
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
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
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
Search interest in PMP22
Potential gene panels for PMP22 gene
CMT Advanced Evaluation - Dominant Panel
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 panelCMT Advanced Evaluation - Dominant, Demyelinating Panel
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 panelCMT Advanced Evaluation - Comprehensive Panel
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 panelCMT Advanced Evaluation - Demyelinating Panel
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 panelComplete HNPP Evaluation Panel
By Athena Diagnostics Inc
This panel specifically test the PMP22 gene.
More info about this panelPMP22 Duplication/Deletion DNA Test Panel
By Athena Diagnostics Inc
This panel specifically test the PMP22 gene.
More info about this panelPMP22 DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the PMP22 gene.
More info about this panelEntrapment Neuropathy Evaluation Panel
By Athena Diagnostics Inc Entrapment Neuropathy Evaluation that also includes the following genes: TTR PMP22
More info about this panelCMT Advanced Evaluation - Initial Genetic Assessment Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Initial Genetic Assessment that also includes the following genes: MFN2 GJB1 MPZ PMP22
More info about this panelCMT Advanced Evaluation - Nonprevalent Panel
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 panelCMT Advanced Evaluation - Nonprevalent Demyelinating Panel
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 panelHearing Loss Advanced Sequencing and CNV Evaluation Panel
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 panelCharcot-Marie-Tooth Hereditary Neuropathy Panel Panel
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 panelCharcot-Marie-Tooth Disease Type 1A/HNPP (PMP22) Panel
By Center for Human Genetics, Inc
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Tendency to Pressure Palsies Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie Tooth type 1A Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Syndrome Panel
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 panelAtaxia Exome Panel Panel
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 panelCharcot-Marie-Tooth Neuropathy Type 1A Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the PMP22 gene.
More info about this panelCMT Type1E, PMP22 Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies (PMP22) Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie Tooth Type 1A Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie Tooth Panel Panel
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 panelCharcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
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 panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
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 panelCharcot-Marie-Tooth Panel
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 panelPeripheral myelin protein 22 (PMP22) gene dosage evaluation by MLPA analysis Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the PMP22 gene.
More info about this panelPeripheral Myelin Protein 22 (PMP22) gene sequencing test Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the PMP22 gene.
More info about this panelPMP22. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMP22 gene.
More info about this panelPMP22. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMP22 gene.
More info about this panelPMP22. Detection of large duplications by MLPA Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMP22 gene.
More info about this panelPMP22. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMP22 gene.
More info about this panelDNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS Panel
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 panelPMP22. Detection of large deletions by MLPA Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies Panel
By CGC Genetics
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth disease type 1A/HNPP (CMT1A/HNPP, deletion/duplication analysis of PMP22 gene) Panel
By CGC Genetics
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth disease type 1E (CMT1E, sequence analysis of PMP22 gene) Panel
By CGC Genetics
This panel specifically test the PMP22 gene.
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
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 panelCharcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
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 panelPMP22-Related Neuropathies via PMP22 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
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 panelCharcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
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 panelComprehensive Neuropathy Sequencing Panel with CNV Detection Panel
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 panelCharcot-Marie-Tooth disease Deletion / Duplication panel Panel
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 panelCharcot-Marie-Tooth disease NGS panel Panel
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 panelCharcot-Marie-Tooth disease Comprehensive panel Panel
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 panelCharcot-Marie-Tooth Type 1A Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PMP22 gene.
More info about this panelNeuropathy Panel
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 panelCharcot-Marie-Tooth Neuropathy Type 1A Panel
By MGZ Medical Genetics Center
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1E Panel
By MGZ Medical Genetics Center
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies Panel
By MGZ Medical Genetics Center
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie Tooth Type 1 Panel Panel
By FirmaLab Charcot Marie Tooth Type 1 Panel that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1A/1E Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PMP22 gene.
More info about this panelhereditary neuropathy with pressure palsies Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth disease Panel
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 panelCMT1A Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PMP22 gene.
More info about this panelCMT1E Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PMP22 gene.
More info about this panelNeuropathy with liability to pressure palsies [HNPP] Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PMP22 gene.
More info about this panelDejerine-Sottas disease Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PMP22 gene.
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelRoussy-Levy syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
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 panelSingle gene testing PMP22 Panel
By CeGaT GmbH
This panel specifically test the PMP22 gene.
More info about this panelPMP22 - Gene sequencing Panel
By Clinical Genetics Academic Medical Center
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1A Panel
By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1A Panel
By Medical Genetics Unit Sistemas Genómicos
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies Panel
By Medical Genetics Unit Sistemas Genómicos
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies (HNPP, PMP22 deletion) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1A (PMP22) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Type 1E (PMP22) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Disease Panel
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 panelCMT/HNPP, PMP22 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PMP22 gene.
More info about this panelCMT1A/HNPP, PMP22 del/dup (MLPA) Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth 1A Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth 1E Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PMP22 gene.
More info about this panelNeuropathy, hereditary, with liability to pressure palsies Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PMP22 gene.
More info about this panelRoussy-Levy syndrome Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PMP22 gene.
More info about this panelqChip Panel
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 panelCharcot-Marie-Tooth 1A Panel
By MedGene
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth 1E Panel
By MedGene
This panel specifically test the PMP22 gene.
More info about this panelNeuropathy, hereditary, with liability to pressure palsies Panel
By MedGene
This panel specifically test the PMP22 gene.
More info about this panelRoussy-Levy syndrome Panel
By MedGene
This panel specifically test the PMP22 gene.
More info about this panelInvitae Comprehensive Neuropathies Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
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 panelCharcot Marie-Tooth disease: PMP22 gene duplication analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PMP22 gene.
More info about this panelCharcot Marie-Tooth disease: PMP22 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PMP22 gene.
More info about this panelNeuropathy with liability to pressure palsies (HNPP), Hereditary: PMP22 gene deletion analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PMP22 gene.
More info about this panelCHARCOT- MARIE TOOTH Panel
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 panelHereditary Neuropathies: Sequencing Panel Panel
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 panelHereditary Neuropathies: Deletion/Duplication Panel Panel
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 panelHereditary Neuropathies NGS Panel Panel
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 panelHearing Loss NGS Panel Panel
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 panelCharcot Marie Tooth Disease Extended NGS Panel Panel
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 panelPMP22 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
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 panelCharcot-Marie-Tooth type 1A Panel
By Bioarray
This panel specifically test the PMP22 gene.
More info about this panelDejerine-Sottas syndrome Panel
By Bioarray
This panel specifically test the PMP22 gene.
More info about this panelHereditary neuropathy with liability to pressure palsies Panel
By Bioarray
This panel specifically test the PMP22 gene.
More info about this panelCharcot-Marie-Tooth disease type 4E Panel
By Bioarray
This panel specifically test the PMP22 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
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 panelCHARCOT-MARIE-TOOTH DISEASE TYPE 1A Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PMP22 gene.
More info about this panelCHARCOT-MARIE-TOOTH DISEASE TYPE 1E Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PMP22 gene.
More info about this panelCHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME) Panel
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 panelDEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3) Panel
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 panelNEUROPATHY, TOMACULOUS (HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PMP22 gene.
More info about this panelCHARCOT-MARIE-TOOTH : NGS PANEL Panel
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 panelCharcot-Marie-Tooth neuropathy demyelinating panel Panel
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 panelCharcot-Marie-Tooth Disease Type 1A, Sequencing PMP22 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PMP22 gene.
More info about this panelHereditary Sensitive to Pressure Neuropathy , Sequencing PMP22 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PMP22 gene.
More info about this panelHereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
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 panelCharcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
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 panelMotor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
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 panelCharcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes Panel
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 panelDejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes Panel
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 panelCharcot Marie Tooth disease, type 1A Panel
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 panelHereditary Neuropathy with Liability to Pressure Palsies: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PMP22 gene.
More info about this panelHereditary Neuropathy with Liability to Pressure Palsies: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PMP22 gene.
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