CHKB

OMIMHGNC

Synonym(s): CHETK, CHKL

Locus: 22q13.33

Protein: Choline/ethanolamine kinase

 

Disorders

Tests

Test Type
Molecular (41)
Multi-Gene Panel (34)
Multi-Method Panel (12)
Test Method
Del/Dup (CNV) (13)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (33)
Prenatal/Carrier
Prenatal (11)
Carrier (16)
Lab Location
Spain(1)
Germany(13)
USA(20)
Portugal(2)
Poland(1)
Canada(2)
Finland(2)
 
TAT: 12-13 weeks
price: contact lab
Congenital Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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: 8-9 weeks
price: contact lab
Congenital Muscular Dystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-7 weeks
price: contact lab
Congenital Muscular Dystrophy Deletion / Duplication Panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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
Congenital muscular dystrophies (NGS Panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Neuromuscular Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 8-9 weeks
price: contact lab
Congenital Myopathies and Muscular Dystrophies Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 3-5 weeks
price: contact lab
Cardiomyopathy in the Context of Neuromuscular Disease
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Newborn: “Floppy Infant “
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Disease with CNS Involvement
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Childhood: Muscle Weakness with High CK (>6x) / Congenital Muscular Dystrophies / Alpha-Dystroglycanopathies
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Myopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Cardiomyopathies, Comprehensive Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
CHKB-Related Muscle Diseases Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Muscular Dystrophies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Single gene testing CHKB
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Congenital Muscular Dystrophy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Congenital Muscular Dystrophy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Muscular dystrophy, congenital, megaconial type (sequence analysis of CHKB gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 7-8 weeks
price: $2,530.00
Comprehensive Cellular Energetics Defects NextGen DNA Screening Panel (704 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Comprehensive Muscular Dystrophy/Myopathy NextGen DNA Screening Panel (183 Genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Lipid Metabolism Deficiency NextGen DNA Screening Panel (122 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 2 weeks
price: $660.00
CHKB Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 3-5 weeks
price: $1,290.00
Congenital Muscular Dystrophy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $690.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $710.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: $2,090.00
Congenital Muscular Dystrophy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 Weeks
price: contact lab
CHKB
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Muscular Dystrophies NGS Panel
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: 2-3 weeks
price: $1,500.00
Invitae Comprehensive Muscular Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: $1,500.00
Invitae Congenital Muscular Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 2-3 weeks
price: contact lab
Osteogenesis Imperfecta Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Blueprint Genetics - Helsinki, Finland
TAT: 2-3 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Blueprint Genetics - Helsinki, Finland