Orphanet: Diagnostik der Achromatopsie Gene: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
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Diagnosis of achromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H genes)

  • Phone : 49 (0)7071 565 44 55
  • Additional Phone : -
  • Fax : 49 (0)7071 565 44 22
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Last update: November 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

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.