Orphanet: Diagnostik der Mukolipidose Typ 2 und 3 GNPTAB Gen
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Diagnosis of mucolipidosis type 2 and 3 (GNPTAB gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/05/2014
  • Institut für Humangenetik
  • Zentrum für Geburtshilfe, Kinder- und Jugendmedizin
  • UKE - Universitätsklinikum Hamburg-Eppendorf
  • Martinistr. 52
  • 20246 HAMBURG
  • GERMANY
  • Director of laboratory : Pr Christian KUBISCH
  • More information
  • Phone : 49 (0)40 74105 2120
  • Additional Phone : 49 (0)40 74105 4613
  • Fax : 49 (0)40 74105 5138
  • Website
  • Contact
Last update: May 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (2)
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.