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Molecular diagnosis of SHOX-gene associated short stature

  • Institut für Humangenetik
  • Universitätsklinikum Aachen
  • Pauwelsstr. 30
  • 52074 AACHEN
  • GERMANY
  • Director of laboratory : Pr Ingo KURTH
  • More information
  • Phone : 49 (0)241 80 80178
  • Additional Phone : -
  • Fax : 49 (0)241 80 82580
  • Website
  • Contact
Last update: September 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (1)

Additional information

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.