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Molecular diagnosis of SHOX gene-associated diseases

  • Institut für Humangenetik
  • Universitätsklinikum Schleswig-Holstein - Campus Lübeck
  • Ratzeburger Allee 160
  • 23538 LÜBECK
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)451 500 2621
  • Additional Phone : -
  • Fax : 49 (0)451 500 4187
  • Website
Last update: July 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
Cytogenetics
Detection of microdeletions/microduplications
FISH

List of diseases and genes

List of genes tested (including panels) (1)

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.