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Molecular diagnosis of Leri-Weill syndrome and SHOX related disorders (entire coding region SHOX gene / MLPA; gene panel SHOX, FGFR3, SRCAP, ANKRD11, PTPN11, RIT1, A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SHOC2, SPRED1, NF1; exome sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 12/01/2015
  • Institut für Medizinische Genetik
  • Universität Zürich
  • Wagistrasse 12
  • 8952 SCHLIEREN
  • SWITZERLAND
  • Director of laboratory : Pr Anita RAUCH
  • More information
  • Phone : 0041 (0)44 556 33 00
  • Additional Phone : -
  • Fax : 0041 (0)44 556 33 01
  • Website
  • Contact
Last update: January 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
-
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (19)

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.