Orphanet: Diagn�stico molecular de la ataxia espinocerebelosa autos�mica dominante genes ATXN1, PPP2R2B, TBP, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8
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Diagnosis of autosomal dominant cerebellar ataxia (ATXN1, PPP2R2B, TBP, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8 genes)

  • Phone : 34 985 10 61 00 ext 37482
  • Additional Phone : -
  • Fax : 34 985 27 36 57
  • Website
Last update: March 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014, 2015, 2016
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