Orphanet: Diagn�stico molecular de la ataxia espinocerebelosa autos�mica dominante genes ATXN1, PPP2R2B, TBP, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8

Search for a diagnostic test

* (*) mandatory field

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


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques

Quality management


EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014, 2015, 2016
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.