Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1, 2, 3, 6, 7, 8, 11, 12, 15, 17, 23, 28 und 29 Gene: AFG3L2, ATXN1 3, ATXN7, CACNA1A, ITPR1, PDYN, PPP2R2B, TBP, TTBK2
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Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 11, 12, 15, 17, 23, 28 and 29 (AFG3L2, ATXN1-3, ATXN7, CACNA1A, ITPR1, PDYN, PPP2R2B, TBP, TTBK2 genes)

  • Gemeinschaftspraxis fr Humangenetik Dres. Bier, Krger und Reif
  • Gemeinschaftspraxis fr Humangenetik
  • Gutenbergstr. 5
  • 01307 DRESDEN
  • GERMANY
  • Director of laboratory : Dr Stefan KRUEGER
  • More information
  • Phone : 49 (0)351 44 66 340
  • Additional Phone : -
  • Fax : 49 (0)351 44 66 3415
  • Website
  • Contact
Last update: July 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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