ATP1A3

OMIMHGNC

Synonym(s): DYT12

Locus: 19q13.2

Protein: Na+/K+ transporting ATPase alpha 3 polypeptide

 

Disorders

Tests

Test Type
Molecular (26)
Panel (13)
Test Method
Del/Dup (CNV) (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (10)
Sequencing, Next Gen (18)
Prenatal/Carrier
Prenatal (5)
Carrier (7)
Lab Location
USA(13)
Spain(7)
Germany(2)
Portugal(1)
Poland(3)
 
ATP1A3-Related Alternating Hemiplegia of Childhood Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
Rapid-Onset Dystonia-Parkinsonism Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
Alternating Hemiplegia of Childhood
method(s): ◦ Sequencing, Capillary (Sanger) 
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 3 genes: ATP1A3, DCTN1, GCH1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 23 genes: ADH1C, ATP13A2, ATP1A3, DCTN1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG1, SNCA, SNCAIP, SNCB, UCHL1, VPS35.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS and Sanger sequencing of the ATP1A3 gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4 weeks
price: contact lab
ATP1A3 sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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
TAT: 3-5 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 8-10 weeks
price: contact lab
Hemiplegia / Stroke Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Rapid Onset Dystonia-Parkinsonism (DPR) , Sequencing ATP1A3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, 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
Ion Channel Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: >20 weeks
price: contact lab
ATP1A3 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Dystonia and Related Disorders, Panel Massive Sequencing (NGS) 14 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Alternating hemiplegia of childhood 2 (sequence analysis of ATP1A3 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Hemiplegia of Chidhood, Alternating 2: ATP1A3 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 2 Weeks
price: contact lab
ATP1A3
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Dystonia Dyskinesia
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hemiplegia/Stroke
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Parkinson-Alzheimer-Dementia
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-5 weeks
price: contact lab
ATP1A3
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Dystonia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain

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