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Diagnosis of Jeune syndrome (DYNC2H1, IFT80 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 17/02/2012
  • Humangenetisches Institut
  • Humangenetisches Institut am Universitätsklinikum Erlangen
  • Schwabachanlage 10
  • 91054 ERLANGEN
  • Director of laboratory : Dr Cornelia KRAUS
  • More information
  • Phone : 49 (0)9131 8522318
  • Additional Phone : 49 (0)9131 8522319
  • Fax : 49 (0)9131 8523232
  • Website
  • Contact
Last update: February 2012

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)

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.