Orphanet: Diagn�stico de la ataxia espinocerebelosa autos�mica dominante genes ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP genes)

  • Phone : 34 93 553 72 65
  • Additional Phone : -
  • Fax : 34 93 553 72 87
  • Website
  • Contact
Last update: September 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
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.