PMP22

OMIMHGNC

Synonym(s): HNPP, GAS-3, Sp110

Locus: 17p12

Protein: Peroxisomal membrane protein 2

 

Disorders

Tests

Test Type
Molecular (68)
Cytogenetic (2)
Panel (33)
Test Method
Del/Dup (CNV) (31)
FISH-Metaphase (2)
Mutation Scanning of Entire Coding Region (6)
Sequencing, Capillary (Sanger) (12)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (38)
Prenatal/Carrier
Prenatal (8)
Carrier (22)
Lab Location
USA(18)
Estonia(1)
Spain(14)
New Zealand(2)
Turkey(3)
Germany(14)
Portugal(2)
Belgium(4)
Greece(2)
Korea, Republic of(1)
Poland(4)
United Kingdom(5)
 
TAT: 7-10 days
price: contact lab
Charcot-Marie-Tooth Neuropathy Type 1A Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
Charcot-Marie-Tooth Neuropathy Type 1A Test
method(s): ◦ Del/Dup (CNV) 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Hereditary Neuropathy with Liability to Pressure Palsies Test
method(s): ◦ Del/Dup (CNV) 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Charcot-Marie-Tooth neuropathy type 1A test
method(s): ◦ Del/Dup (CNV) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Charcot-Marie-Tooth Disease Test; Type 1A (CMT1A), Type 1B (CMT1B) X-linked (CMTX1) - MLPA analysis
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Hereditary Neuropathy With Liability To Pressure Palsy HNPP Test
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
FISH-Charcot-Marie-Tooth (CMT1A) DI
method(s): ◦ FISH-Metaphase 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
FISH-Hereditary Neuropathy W/ LIABI
method(s): ◦ FISH-Metaphase 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 1 week
price: contact lab
Charcot Marie Tooth 1A (PMP22)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 1 week
price: contact lab
HNPP
method(s): ◦ Del/Dup (CNV) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Charcot-Marie-Tooth Neuropathy Type 1A (PMP22)
method(s): ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Charcot-Marie-Tooth Neuropathy Type 1E (PMP22)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP, PMP22 deletion)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Hereditary Neuropathies: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of the PMP22 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Duplication detection of the PMP22 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 7 genes: ARHGEF10, EGR2, GDAP1, LITAF, MPZ, NEFL, PMP22
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: EGR2, FGD4, FIG4, GDAP1, GDAP1L1, HK1, MPZ, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 34 genes: AARS, ARHGEF10, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GDAP1L1, GJB1, HK1, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PRX, PMP22, PRPS1, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: EGR2, MPZ, PMP22, PRX
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 2 genes: MPZ, PMP22
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Del/Dup (CNV) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 4-5 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Del/Dup (CNV) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: >20 weeks
price: contact lab
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 7-8 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2 weeks
price: contact lab
PMP22 Gene Del/Dup
method(s): ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2 weeks
price: contact lab
PMP22 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4 weeks
price: contact lab
PMP22 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 10 weeks
price: contact lab
Hereditary Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Charcot-Marie-Tooth Neuropathy Type 1E (PMP22) Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Charcot-Marie-Tooth Disease Type 1A, Duplication PMP22 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Charcot-Marie-Tooth Disease Type 1A, Sequencing PMP22 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, type 1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Hereditary neuropathy with liability to pressure palsies
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, autosomal dominant
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease, full panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
Hereditary Sensitive to Pressure Neuropathy , Deletion(17p11.2) PMP22 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Charcot-Marie-Tooth disease type 4, demyelinating, AR (NGS panel for EGR2, FGD4, FIG4, GDAP1, GDAP1L1, HK1, MPZ, MTMR2, NDRG1, PMP22, PRX, SBF2 and SH3TC2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Hereditary Peripheral Neuropathy (NGS panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 5-6 weeks
price: contact lab
PMP22 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 8-9 weeks
price: contact lab
Demyelinating CMT Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 5-6 weeks
price: contact lab
Core CMT Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Hereditary Peripheral Neuropathy, Panel Massive Sequencing (NGS) 31 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-6 Weeks
price: contact lab
Charcot Marie Tooth Disease Extended
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hearing Loss
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hereditary Neuropathies
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
PMP22
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-8 weeks
price: contact lab
Charcot-Marie-Tooth Disease
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Charcot-Marie-Tooth
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Charcot-Marie-Tooth Neuropathy ( CMT1A)
method(s): ◦ Del/Dup (CNV) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
TAT: 5-6 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 3-4 weeks
price: contact lab
Deletion/Duplication PMP22 (Charcot-Marie-Tooth Neuropathy Type 1A)
method(s): ◦ Del/Dup (CNV) 
Cidegen, SL - Salamanca, Spain
Charcot-Marie-Tooth Disease Type 1A (CMT1A duplication)
method(s): ◦ Del/Dup (CNV) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
Charcot-Marie-Tooth Disease Type 1A (PMP22 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP deletion)
method(s): ◦ Del/Dup (CNV) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
Hereditary Neuropathy with Liability to Pressure Palsies (PMP22 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Demyelinating
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Axonal
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Early Childhood Manifestation
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Basic Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Type 1A Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Type 1E Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Charcot-Marie-Tooth and Sensory Neuropathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany

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