Orphanet: Molecular diagnosis of Spinocerebellar Ataxia type 1, 2, 3, 6, 7, 12, 17 and 27 ATXN1, ATXN2, AXTN3, CACNA1A, ATXN7, PPP2R2B, TBP and FGF14 gene
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Molecular diagnosis of Spinocerebellar Ataxia type 1, 2, 3, 6, 7, 12, 17 and 27 (ATXN1, ATXN2, AXTN3, CACNA1A, ATXN7, PPP2R2B, TBP and FGF14 gene)

  • Sectie DNA diagnostiek
  • Afdeling Klinische Genetica
  • Erasmus MC, Faculteitsgebouw
  • Dr. Molewaterplein 50
  • 3015 GE ROTTERDAM
  • NETHERLANDS
  • Director of laboratory : Dr E.H. [Lies] HOEFSLOOT
  • More information
  • Phone : +31 (0)10 704 3197
  • Additional Phone : -
  • Fax : +31 (0)10 704 3200
  • Website
  • Contact
Last update: March 2017

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

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

Quality management

EQA
 EQA

EQA scheme(s) organized by UKNEQAS

SCAs (Spinocerebellar ataxias)
2014, 2015, 2016
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