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Molecular diagnosis of SHOX gene-associated diseases

  • MVZ Dr. Eberhard und Partner - Bereich Laboratoriumsmedizin und Humangenetik
  • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
  • Brauhausstra▀e 4
  • 44137 DORTMUND
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)231 95720
  • Additional Phone : -
  • Fax : 49 (0)231 553619
  • Website
  • Contact
Last update: July 2017

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

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.