Orphanet: Diagnostik der Aniridie PAX6 Gen
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of aniridia (PAX6 gene)

  • Gemeinschaftspraxis für Humangenetik Dres. Bier, Krüger und Reif
  • Gemeinschaftspraxis für 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: March 2018

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
Cytogenetics
Detection of microdeletions/microduplications
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)

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.