x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of autosomal dominant optic atrophy (MFN2, OPA1, OPA3 genes)

  • Institut für Humangenetik
  • Institut für Humangenetik am Universitätsklinikum Freiburg
  • Breisacher Straße 33
  • 79106 FREIBURG
  • GERMANY
  • Director of laboratory : Pr Judith FISCHER
  • More information
  • Phone : 49 (0)761 270 70510
  • Additional Phone : 49 (0)761 270 70560
  • Fax : 49 (0)761 270 70410
  • Website
  • Contact
Last update: August 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)

Additional information

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.