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Molecular cytogenetic analysis (haploinsufficiency) of SHOX gene

  • Institut für Humangenetik
  • Institut für Humangenetik am Universitätsklinikum Freiburg
  • Breisacher Straße 33
  • 79106 FREIBURG
  • GERMANY
  • 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: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Cytogenetics
Detection of chromosome alterations large in size
Karyotyping
Detection of microdeletions/microduplications
FISH

List of diseases and genes

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