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

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Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/09/2016
  • Unidad de Gentica Molecular y Patologas Hereditarias
  • Laboratorio de Anlisis Dr. Echevarne
  • Calle Provenza, 312, bajos
  • 08037 BARCELONA
  • Director of laboratory : Dr Alfonso ECHEVARNE
  • More information
  • Phone : 34 935 04 01 16
  • Additional Phone : -
  • Fax : 34 932154838
  • Website
Last update: September 2016

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
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