Orphanet: Diagnosis of congenital stationary night blindness Panel
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Diagnosis of congenital stationary night blindness (Panel)

  • Phone : 45 66 11 66 28
  • Additional Phone : -
  • Fax : 45 66 11 66 78
  • Website
Last update: March 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (15)

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.