Orphanet: Diagnostik der spinozerebell�ren Ataxie Typ 1, 2, 3, 6, 7, 8, 10, 12 und 17 Gene: ATXN1 3, ATXN10, ATXN7, ATXN8OS, CACNA1A, PPP2R2B, TBP
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8, 10, 12 and 17 (ATXN1-3, ATXN10, ATXN7, ATXN8OS, CACNA1A, PPP2R2B, TBP, genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/11/2012
  • Medicover Humangenetik - Berlin-Lichtenberg
  • Praxis fr Humangenetik
  • Frankfurter Allee 111
  • 10247 BERLIN
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)30 577 987 12
  • Additional Phone : -
  • Fax : 49 (0)30 577 987 19
  • Website
  • Contact
Last update: November 2012

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.