Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1, 2, 3, 6, 7 und 17 Gene: ATXN1 3, ATXN7, CACNA1A und TBP
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Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17 (ATXN1-3, ATXN7, CACNA1A, TBP genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 16/06/2009
  • Institut fr Humangenetik
  • Institut fr Humangenetik der Universitt Gttingen
  • Heinrich-Dker-Weg 12
  • 37073 GTTINGEN
  • GERMANY
  • Director of laboratory : Pr Peter BURFEIND
  • More information
  • Phone : 49 (0)551 39 60606
  • Additional Phone : -
  • Fax : 49 (0)551 39 69303
  • Website
  • Contact
Last update: June 2009

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014
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