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Molecular diagnosis of SHOX gene-associated diseases (sequencing / MLPA)

  • bio.logis Zentrum für Humangenetik
  • bio.logis Zentrum für Humangenetik
  • Altenhöferallee 3
  • 60438 FRANKFURT AM MAIN
  • GERMANY
  • Director of laboratory : Pr Daniela STEINBERGER
  • More information
  • Phone : 49 (0)69 530 8437 0
  • Additional Phone : -
  • Fax : 49 (0)69 530 8437 11
  • Website
  • Contact
Last update: July 2015

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)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SHOX (Short stature homeobox gene testing)
2015
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.