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Molecular diagnosis of SHOX gene-associated diseases

  • Institut für Humangenetik
  • Universitätsmedizin Mainz
  • Langenbeckstr. 1
  • 55131 MAINZ
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)6131 17 3871
  • Additional Phone : -
  • Fax : 49 (0)6131 17 5690
  • Website
Last update: September 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SHOX (Short stature homeobox gene testing)
2014
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.