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Molecular diagnosis of SHOX gene-associated diseases

  • Gemeinschaftspraxis für Humangenetik
  • Biomedizinisches Zentrum
  • Kardinal-Wendel-Str. 14
  • 66424 HOMBURG
  • GERMANY
  • Director of laboratory : Dr Thomas MARTIN
  • More information
  • Phone : 49 (0)6841 777 84 50
  • Additional Phone : -
  • Fax : 49 (0)6841 777 84 40
  • Website
  • Contact
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)

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.