PABPN1

OMIMHGNC

Synonym(s): PAB2, OPMD, PABP2

Locus: 14q11.2

Protein: Polyadenylate-binding protein 2

 

Disorders

Tests

Test Type
Molecular (29)
Multi-Gene Panel (14)
Multi-Method Panel (11)
Test Method
Del/Dup (CNV) (7)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (10)
Repeat Expansion / Contraction (8)
Sequencing, Next Gen (15)
Prenatal/Carrier
Prenatal (3)
Carrier (6)
Lab Location
USA(10)
Spain(5)
Portugal(3)
Germany(6)
Canada(3)
Korea, Republic of(1)
Poland(1)
 
Oculopharyngeal Muscular Dystrophy Test
method(s): ◦ Repeat Expansion / Contraction 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
Oculopharyngeal Muscular Dystrophy test
method(s): ◦ Repeat Expansion / Contraction 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Oculopharyngeal Muscular Dystrophy
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 2 weeks
price: contact lab
Oculopharyngeal Muscular Dystrophy (OPMD): PABPN1 GCN Repeat Analysis
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-5 weeks
price: contact lab
Detection of CGC expansion in the PABPN1 gene
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 7 genes: CHKB, ITGA7, LAMA2, LMNA, PABPN1, PLEC, SEPN1.
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 15 genes: COL 6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, LARGE, LAM A2, LMNA, PABPN1, PLEC, POMGNT1, POMT1, POMT2, SEP
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Oculopharyngeal Muscular Dystrophy, Triplet Expansion (CGC) PABPN1 Gene
method(s): ◦ Repeat Expansion / Contraction 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Oculopharyngeal muscular dystrophy (sequence analysis of PABPN1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Congenital muscular dystrophies (NGS Panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
PABPN1 Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
Congenital and Distal Myopathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Muscular Dystrophies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing PABPN1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Oculopharyngeal Muscular Dystrophy (OPMD): PABPN1 GCN Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Expanded Neuromuscular Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 3-4 weeks
price: contact lab
PABPN1
method(s): ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Non-mitochondrial Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 32 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
BCL2L2-PABPN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Neuromuscular NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PABPN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Muscular dystrophy, oculopharyngeal
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 8-10 weeks
price: contact lab
NGS Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA