Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1 8, 10, 12 14, 17 und 27 Gene: ATXN1 3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2 und TBP
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of spinocerebellar ataxia type 1-8, 10, 12-14, 17 and 27 (ATXN1-3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, KCNC3, PLEKHG4, PPP2R2B, PRKCG, SPTBN2 and TBP genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 20/11/2013
  • Phone : 49 (0)381 44022410
  • Additional Phone : -
  • Fax : 49 (0)381 44022419
  • Website
  • Contact
Last update: November 2013

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
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.