PHKB

OMIMHGNC

Locus: 16q12-q13

Protein: Phosphorylase b kinase regulatory subunit beta

 

Disorders

Tests

Test Type
Molecular (19)
Panel (7)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (2)
Carrier (4)
Lab Location
USA(16)
Spain(1)
Portugal(2)
 
TAT: 8-9 weeks
price: contact lab
GSD Muscle Panel (MitomeNGS)
method(s): ◦ Sequencing, Next Gen 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 8-9 weeks
price: contact lab
GSD Liver Panel (MitomeNGS)
method(s): ◦ Sequencing, Next Gen 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
PHKB Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
PHKB KFM Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
PHKB Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
PHKB Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
PHKB Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 12-13 weeks
price: contact lab
Glycogen Storage Disorders: Comprehensive Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Glycogen Storage Disorders- Liver: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Glycogen Storage Disorders- Muscle: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: $1,540.00
Glycogen Storage Disease Type IX via the PHKB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Glycogen Storage Disease Type IX via the PHKB Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: $1,640.00
Glycogen Storage Disease NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,390.00
Glycogen Storage Disease Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Glycogen Storage Disease by Phosphorylase Kinase Hepatic and Muscular Deficiency, Sequencing PHKB Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-5 Weeks
price: contact lab
PHKB
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PHKB
method(s): ◦ Sequencing, Capillary (Sanger) 
Fulgent Diagnostics - Temple City, CA, USA
Glycogen storage disease (NGS panel for 13 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Glycogen storage disease type IXb (sequence analysis of PHKB gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal

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