ATXN3

OMIMHGNC

Synonym(s): ATX3, JOS, SCA3, MJD

Locus: 14q32.12

Protein: Ataxin 3 variant ref

 

Disorders

Tests

Test Type
Molecular (46)
Multi-Gene Panel (32)
Multi-Method Panel (16)
Test Method
Del/Dup (CNV) (13)
Linkage Analysis (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Genotyping (Microarray, Beads, etc.) (3)
Repeat Expansion / Contraction (27)
Sequencing, Next Gen (22)
Prenatal/Carrier
Prenatal (8)
Carrier (8)
Lab Location
Poland(2)
Spain(5)
Germany(9)
Portugal(2)
USA(15)
New Zealand(2)
Korea, Republic of(1)
Turkey(3)
Czech Republic(1)
Greece(1)
Bulgaria(1)
Austria(1)
Taiwan, Province of China(1)
Finland(1)
Canada(1)
 
Spinocerebellar Ataxia Type 3 Test (the ATXN3 gene - dynamic mutation)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Spinocerebellar Ataxia Type 3 Test
method(s): ◦ Repeat Expansion / Contraction 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
SCA test
method(s): ◦ Repeat Expansion / Contraction 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Spinocerebellar Ataxia Panel Test
method(s): ◦ Repeat Expansion / Contraction 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
TAT: 3-4 weeks
price: contact lab
Spinocerebellar Ataxia (SCA) Type 3
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Spinocerebellar Ataxia Type 3
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 4-5 weeks
price: contact lab
Parallel study of Spinocerebellar Ataxias SCA1, SCA2, SCA3, SCA6, SCA7
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
CAG Expansion detection in the ATXN3 gene
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2 weeks
price: contact lab
Spinocerebellar Ataxia Panel
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
ATXN3 Gene Detection of Trinucleotide Repeats
method(s): ◦ Repeat Expansion / Contraction 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease), Triplet Expansion (CAG) ATXN3 Gene (SCA3)
method(s): ◦ Repeat Expansion / Contraction 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spinocerebellar Ataxia, autosomal dominant
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Laboratories AGEL a.s. - Novy Jicin, Czech Republic
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 ataxias SCA1, SCA2, SCA3 and SCA6 (CAG expansion on genes ATXN1, ATXN2, ATXN3 and CACNA1A)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 3 Test
method(s): ◦ Repeat Expansion / Contraction 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Spinocerebellar Ataxia Type 3
method(s): ◦ Repeat Expansion / Contraction 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, 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: 1-3 weeks
price: contact lab
Spinocerebellar Ataxia Type 3 Test
method(s): ◦ Repeat Expansion / Contraction 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Atypical Parkinson Syndrome Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Parkinson all Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Hereditary Degenerative Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Machado Joseph disease (SCA3, CAG expansion on ATXN3 gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 3 Test (Machado-Joseph Disease)
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
TAT: ~2 weeks
price: contact lab
Spinocerebellar Ataxia Panel
method(s): ◦ Repeat Expansion / Contraction 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
TAT: 2-3 weeks
price: contact lab
Neurological Panel
method(s): ◦ Repeat Expansion / Contraction 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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
ATXN3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: contact lab
ATXN3 Test
method(s): ◦ Repeat Expansion / Contraction 
CeGaT GmbH - Tübingen, Germany
Spinocerbellar Ataxia (Spinozerebelläre Ataxie), Fragment Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
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 and Copy Number Analysis; 362 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; 362 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; 362 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; 362 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: 4-5 weeks
price: contact lab
Parkinsons disease panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
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; 362 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
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
TAT: 4-8 weeks
price: contact lab
Spinocerebellar Ataxia Type 3
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada