Orphanet: Diagnostik der Achromatopsie NGS Screening Panel: 6 Gene
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Diagnosis of achromatopsia (NGS screening panel: 6 genes)

  • Zentrum für Humangenetik Regensburg
  • Universitätsklinikum Regensburg
  • Franz-Josef-Strauß-Allee 11
  • 93053 REGENSBURG
  • GERMANY
  • Director of laboratory : Pr Ute HEHR
  • More information
  • Phone : 49 (0)941 944 5410
  • Additional Phone : -
  • Fax : 49 (0)941 944 5402
  • Website
  • Contact
Last update: October 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (5)
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.