Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1 3, 6 8, 10 14, 17, 27, 28 Gene: AFG3L2, ATXN1 3, ATXN7, ATXN10, CACNA1A, FGF14, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2
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Diagnosis of spinocerebellar ataxia type 1-3, 6-8, 10-14, 17, 27, 28 (AFG3L2, ATXN1-3, ATXN7, ATXN10, CACNA1A, FGF14, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2 genes)

  • Institut fr Humangenetik
  • Universittsklinikum Schleswig-Holstein - Campus Lbeck
  • Ratzeburger Allee 160
  • 23538 LBECK
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)451 500 50401
  • Additional Phone : -
  • Fax : 49 (0)451 500 50404
  • Website
Last update: July 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014
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