ATXN3

OMIMHGNC

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

Locus: 14q21

Protein: Ataxin 3 variant ref

 

Disorders

Tests

Test Type
Molecular (28)
Panel (15)
Test Method
Sequencing, Capillary (Sanger) (3)
Genotyping (Microarray, Beads, etc.) (2)
Repeat Expansion / Contraction (13)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (4)
Carrier (3)
Lab Location
Poland(2)
Spain(5)
USA(4)
Germany(7)
Portugal(2)
New Zealand(2)
Korea, Republic of(1)
Turkey(3)
Czech Republic(1)
Greece(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: 7-8 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 - Barcelona, 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 - Barcelona, 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
Atypical Parkinson Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Parkinson all Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Choreatic Movement Disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Ataxia and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
ATXN3
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
ATXN3
method(s): ◦ Sequencing, Capillary (Sanger) 
Fulgent Diagnostics - Temple City, CA, USA
Machado Joseph disease (SCA3, CAG expansion on ATXN3 gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal

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