PMP22

OMIMHGNC

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

Locus: 17p12

Protein: Peroxisomal membrane protein 2

 

Disorders

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Test Type
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Next Gen
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Sequencing, Capillary (Sanger)
FISH-Metaphase
Genotyping (Microarray, Beads, etc.)
Mutation Scanning of Entire Coding Region
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Korea, Republic of
New Zealand
Poland
Spain
Turkey
United Kingdom
USA

Tests

Test
TAT: 12-16 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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: 8-9 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 8-9 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 4-5 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 4-5 weeks
price: contact lab
Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
Charcot-Marie-Tooth Disease Test; Type 1A (CMT1A), Type 1B (CMT1B) X-linked (CMTX1) - MLPA analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Charcot-Marie-Tooth Disease Type 1A, Duplication PMP22 Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
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) 10 Genes
method(s): ◦ Sequencing, Next Gen 
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
Charcot-Marie-Tooth Neuropathy Type 1A (PMP22)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 3-5 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Type 1A Test
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Charcot-Marie-Tooth Neuropathy Type 1A Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Charcot-Marie-Tooth neuropathy type 1A test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Charcot-Marie-Tooth Neuropathy Type 1E (PMP22)
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
TAT: 4-5 weeks
price: contact lab
Duplication detection of the PMP22 gene by MLPA
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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: >20 weeks
price: contact lab
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 4-6 weeks
price: contact lab
Hearing Loss NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Hereditary Neuropathies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
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: 10 weeks
price: contact lab
Hereditary Neuropathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP, PMP22 deletion)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Hereditary Neuropathy with Liability to Pressure Palsies Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Hereditary Neuropathy With Liability To Pressure Palsy HNPP Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 1 week
price: contact lab
HNPP
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 8-10 weeks
price: contact lab
Neuropathy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 2 genes: MPZ, PMP22
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: EGR2, MPZ, PMP22, PRX
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2 weeks
price: contact lab
PMP22 Gene Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
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) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4 weeks
price: contact lab
PMP22 Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, 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