Orphanet: Diagn�stico molecular das ataxias espinocerebelosas autoss�micas dominantes tipo: 1, 2, 3, 5, 6, 7, 10, 11, 12, 13, 14, 17, 18, 27 e DRPLA genes ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN10, TTBK2, PPP2R2B, PRKCG, TBP, KCNC3, IFRD1, FGF14, SPTBN2, ATN1
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Molecular diagnosis of autossomal dominant spinocerebellar ataxia type 1, 2, 3, 5, 6, 7, 10, 11, 12, 13, 14, 17, 18, 27 and DRPLA (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN10, TTBK2, PPP2R2B, PRKCG, TBP, KCNC3, IFRD1, FGF14, SPTBN2, ATN1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 31/10/2013
  • Centro de Gentica Preditiva e Preventiva
  • Instituto de Biologia Molecular e Celular
  • Rua do Campo Alegre, 823
  • 4150-180 PORTO
  • PORTUGAL
  • Director of laboratory : Pr Jorge SEQUEIROS
  • More information
  • Phone : 351 226 074 942
  • Additional Phone : -
  • Fax : 351 226 002 923
  • Website
  • Contact
Last update: October 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014
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