Orphanet: Biochemische Bestimmung lysosomaler Hydrolasen und molekulare GNPTAB Gen Diagnostik der Mukolipidose Typ II und Typ III alphabeta

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Biochemical (analysis of lysosomal hydrolases) and molecular (GNPTAB gene) of Mucolipidosis type II and type III alpha/beta

  • Labor für klinische Biochemie und molekulare Genetik angeborener Stoffwechselstörungen
  • Universitätsklinik für Kinder- und Jugendheilkunde
  • Medizinische Universität Graz
  • 8036 GRAZ
  • Director of laboratory : Pr Werner WINDISCHHOFER
  • More information
  • Phone : +43 (0)316 385 84013
  • Additional Phone : -
  • Fax : -
  • Contact
Last update: November 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

List of genes tested (including panels) (1)
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