PPP2R2B

OMIMHGNC

Synonym(s): PR55-BETA, PR52B, B55beta, SCA12

Locus: 5q32

Protein: Protein phosphatase 2 regulatory subunit B

 

Disorders

Tests

Test Type
Molecular (30)
Multi-Gene Panel (22)
Multi-Method Panel (13)
Test Method
Del/Dup (CNV) (10)
Linkage Analysis (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (18)
Sequencing, Next Gen (17)
Prenatal/Carrier
Prenatal (4)
Carrier (6)
Lab Location
Spain(4)
Portugal(2)
USA(11)
Korea, Republic of(1)
Turkey(2)
Germany(3)
Poland(1)
Greece(1)
Bulgaria(1)
Austria(2)
Taiwan, Province of China(1)
Finland(1)
 
SCA test
method(s): ◦ Repeat Expansion / Contraction 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
Spinocerebellar Ataxia (SCA) Type 12
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Spinocerebellar Ataxia Type12
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 4-5 weeks
price: contact lab
CAG Expansion detection in the PPP2R2B gene
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Spinocerebellar Ataxia Type 12, Triplet Expansion (CAG) PPP2R2B Gene (SCA12)
method(s): ◦ Repeat Expansion / Contraction 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Ataxia Related Disorders, Panel Massive Sequencing (NGS) 36 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 12 Test
method(s): ◦ Repeat Expansion / Contraction 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Ataxia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 2-3 weeks
price: contact lab
SCA Panel (Types 1, 2, 3, 6, 7, 8, 10, 12, 17)
method(s): ◦ Repeat Expansion / Contraction 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 12 Test
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
PPP2R2B
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Ataxia, autosomal dominant( 26 Genes,NDD25)
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Spinocerbellar Ataxia (Spinozerebelläre Ataxie), Fragment Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Praxis fuer Humangenetik Wien - Vienna, Austria
Spinocerebellar Ataxia (Spinozerebelläre Ataxie), Sequencing Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 5-7 weeks
price: contact lab
Molecular testing for spinocerebellar ataxias
method(s): ◦ Linkage Analysis ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory of Neurogenetics - Taipei, Taiwan, Province of China
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Ataxia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Ataxia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Spinocerebellar Ataxia Repeat Expansion Panel (SCA 8, 10, 12, 17, 36 and DRPLA)
method(s): ◦ Repeat Expansion / Contraction 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 and DRPLA)
method(s): ◦ Repeat Expansion / Contraction 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA