ATN1

OMIMHGNC

Synonym(s): B37, D12S755E, DRPLA

Locus: 12p13.31

Protein: Atrophin 1

 

Disorders

Tests

Test Type
Molecular (38)
Multi-Gene Panel (22)
Multi-Method Panel (14)
Test Method
Del/Dup (CNV) (11)
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 (24)
Sequencing, Next Gen (20)
Prenatal/Carrier
Prenatal (5)
Carrier (8)
Lab Location
Poland(2)
Spain(4)
Germany(7)
Portugal(2)
USA(15)
New Zealand(1)
Korea, Republic of(1)
Greece(1)
Bulgaria(1)
Austria(2)
Taiwan, Province of China(1)
Finland(1)
 
DRPLA (Dentatorubral-Pallidoluysian Atrophy) Test
method(s): ◦ Repeat Expansion / Contraction 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Dentatorubral-Pallidoluysian Atrophy test
method(s): ◦ Repeat Expansion / Contraction 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Dentatorubral-Pallidoluysian Atrophy Test (DRPLA) - (the ATN1 gene - dynamic mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 3-4 weeks
price: contact lab
Dentatorubral Pallidoluysian Atrophy
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Dentatorubral-Pallidoluysian Atrophy
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis
method(s): ◦ Repeat Expansion / Contraction 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-5 weeks
price: contact lab
CAG Expansion detection in the ATN1 gene (DRPLA) 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
TAT: 2-3 weeks
price: contact lab
ATN1 Gene Detection of Trinucleotide Repeats
method(s): ◦ Repeat Expansion / Contraction 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Dentatorubral Pallidoluysian Atrophy, Triplet Expansion (CAG) ATN1 Gene
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
Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Ataxia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 1-2 weeks
price: contact lab
Dentatorubro-Pallidoluysian Atrophy (DRPLA) Test
method(s): ◦ Repeat Expansion / Contraction 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 1-3 weeks
price: contact lab
DRPLA Test
method(s): ◦ Repeat Expansion / Contraction 
MGZ München, Medizinisch Genetisches Zentrum München - München, 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
Choreatic Movement Disorders Panel
method(s): ◦ Repeat Expansion / Contraction ◦ 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
Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat expansion on ATN1 gene
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Dentatorubro-pallidoluysian Atrophy (DRPLA) Test
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
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: 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: 4-5 Weeks
price: contact lab
ATN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Huntington disease (Chorea Huntington/ like)
method(s): ◦ Sequencing, Next Gen 
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 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 weeks
price: contact lab
Dentatorubral-pallidoluysian atrophy
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction 
Centogene AG, Rare Disease Company - Rostock, Germany
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: 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
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