Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1, 2, 3, 6, 7, 17 Gene: ATXN1 3, ATXN7, CACNA1A, TBP
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Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 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 15/06/2014
  • Abteilung Molekulargenetik
  • Zentrum fr Humangenetik und Laboratoriumsdiagnostik (MVZ)
  • Lochhamer Str. 29
  • 82152 MARTINSRIED
  • GERMANY
  • Director of laboratory : Dr Imma ROST
  • More information
  • Phone : 49 (0)89 89 55 78 0
  • Additional Phone : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Contact
Last update: June 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SCA (Spinocerebellar ataxias)
2014, 2017
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