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Molecular diagnosis of Mucopolysaccharidosis type 4B (GLB1 gene)

  • Zentrum Medizinische Genetik Innsbruck
  • Department für Medizinische Genetik, Molekulare und Klinische Pharmakologie
  • Medizinische Universität Innsbruck
  • 6020 INNSBRUCK
  • AUSTRIA
  • Director of laboratory : Pr Johannes ZSCHOCKE
  • More information
  • Phone : +43 (0)512 9003 70531
  • Additional Phone : -
  • Fax : +43 (0)512 9003 73510
  • Website
  • Contact
Last update: October 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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.