ATXN8

OMIMHGNC

Locus: 13q21.33

Protein: Ataxin-8

 

Disorders

Tests

Test Type
Molecular (6)
Multi-Gene Panel (4)
Multi-Method Panel (1)
Test Method
Linkage Analysis (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (1)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (4)
Sequencing, Next Gen (2)
Prenatal/Carrier
Carrier (1)
Lab Location
Spain(2)
Portugal(1)
Bulgaria(1)
Austria(1)
Taiwan, Province of China(1)
 
Spinocerebellar Ataxia Type 8, Triplet Expansion (CAG) ATXN8 Gene (SCA8)
method(s): ◦ Repeat Expansion / Contraction 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spinocerebellar ataxia 8 (SCA8, CTG/CAG expansion on ATXN80S/ATXN8 gene)
method(s): ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Ataxia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Spinocerebellar Ataxia Type 8 Test
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
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