DMPK

OMIMHGNC

Synonym(s): DMK, DM1PK, MDPK, MT-PK, DM1, DM

Locus: 19q13.32

Protein: DMPK protein

 

Disorders

Tests

Test Type
Molecular (39)
Multi-Gene Panel (10)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (5)
Methylation Analysis (1)
Mutation Scanning of Select Exons (1)
Sequencing, Capillary (Sanger) (5)
Genotyping (Microarray, Beads, etc.) (4)
Repeat Expansion / Contraction (20)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (12)
Carrier (9)
Lab Location
Portugal(1)
USA(14)
Poland(1)
Spain(4)
Germany(5)
Canada(4)
New Zealand(1)
Korea, Republic of(1)
Turkey(3)
India(1)
United Kingdom(1)
Greece(1)
Bulgaria(1)
Austria(1)
 
TAT: 3-4 weeks
price: contact lab
Myotonic Dystrophy Type 1 Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Myotonic dystrophy type I (Steinert disease, DM1, CTG expansion on DMPK gene)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Myotonic Dystrophy Type 1 Test
method(s): ◦ Repeat Expansion / Contraction 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 1-2 weeks
price: contact lab
Myotonic Dystrophy Type 1 (DM1)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Myotonic Dystrophy Type 1 Test
method(s): ◦ Repeat Expansion / Contraction 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Myotonic dystrophy type1 test
method(s): ◦ Repeat Expansion / Contraction 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Myotonic Dystrophy 1 Test (the DMPK gene - dynamic mutation)
method(s): ◦ Repeat Expansion / Contraction 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 3-4 weeks
price: contact lab
Myotonic Dystrophy
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Myotonic Dystrophy-PRENATAL
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
Myotonic Dystrophy
method(s): ◦ Repeat Expansion / Contraction 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Myotonic Dystrophy Type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 3-4 weeks
price: contact lab
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 3-4 weeks
price: contact lab
Myotonic Dystrophy: CTG Repeat Analysis
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-5 weeks
price: contact lab
Detection of the CTG expansion in the DMPK gene by TP-PCR
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-3 weeks
price: contact lab
Myotnic Dystrophy Type 1
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 5-6 weeks
price: contact lab
DMPK Gene Detection of Trinucleotide Repeats and Southern Blot
method(s): ◦ Repeat Expansion / Contraction 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Myotonic Dystrophy Type 1 (Steinert), Triplet Expansion (CTG) DMPK Gene
method(s): ◦ Repeat Expansion / Contraction 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
Myotonic Dystrophy Type 1
method(s): ◦ Repeat Expansion / Contraction 
GeneTech - Hyderabad, India
Myotonic Dystrophy Type 1
method(s): ◦ Repeat Expansion / Contraction 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Myotonic Dystrophy Type 1
method(s): ◦ Repeat Expansion / Contraction 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
TAT: 4 weeks
price: contact lab
DMPK Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
GeneDx - Gaithersburg, MD, USA
Myotonic Dystrophy
method(s): ◦ Mutation Scanning of Select Exons 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 1-2 weeks
price: contact lab
Myotonic Dystrophy Type I Test (DM1)
method(s): ◦ Repeat Expansion / Contraction 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 3-5 weeks
price: contact lab
Myotonic Dystrophy Type 1 Test
method(s): ◦ Repeat Expansion / Contraction 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Myotonic Dystrophy: CTG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Myotonic Dystrophy Type 1 Test
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
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 weeks
price: contact lab
Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat expansion)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Repeat Expansion / Contraction 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Myotonic Dystrophy Type 1
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
TAT: 4-5 Weeks
price: contact lab
DMPK
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Myotonic dystrophy (Myotone Dystrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Neuromuscular Channelopathies, Panel Massive Sequencing (NGS) 47 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2 weeks
price: contact lab
Myotonic Dystrophy Type 1 (DMPK) Repeat Expansion
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 9-10 weeks
price: contact lab
CentoMito™ Comprehensive
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany