Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1 4, 6 8, 10 17, 27, 29 Gene: ATXN1 3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, ITPR1, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2
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Diagnosis of spinocerebellar ataxia type 1-4, 6-8, 10-17, 27, 29 (ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, ITPR1, KCNC3, PPP2R2B, PRKCG, TBP, TTBK2 genes)

  • Institut fr Medizinische Genetik und angewandte Genomik
  • Institut fr Medizinische Genetik und angewandte Genomik Tbingen
  • Calwerstr. 7
  • 72076 TBINGEN
  • GERMANY
  • Director of laboratory : Dr Tobias HAACK
  • More information
  • Phone : 49 (0)7071 29 72288
  • Additional Phone : -
  • Fax : 49 (0)7071 29 5171
  • Website
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Methylation analysis
MLPA based techniques

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014
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