Orphanet: Diagnostik der kongenitalen stationären Nachtblindheit Gene: CACNA1F, GNAT1, LRIT3, NYX, RHO, TRPM1

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Diagnosis of congenital stationary night blindness (CACNA1F, GNAT1, LRIT3, NYX, RHO, TRPM1 genes)

  • Institut fr Humangenetik
  • Institut fr Humangenetik am Universittsklinikum Freiburg
  • Breisacher Strae 33
  • 79106 FREIBURG
  • 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


Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (6)

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.