Orphanet: Diagnostic de la mucolipidose de type 2 g�ne GNPTAB
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Diagnosis of mucolipidosis type 2 (GNPTAB gene)

  • Laboratoire de biochimie
  • Ple biologie
  • Institut Fdratif de Biologie
  • 330 avenue de Grande Bretagne
  • 31059 TOULOUSE
  • FRANCE
  • Director of laboratory : Pr Bertrand PERRET
  • More information
  • Phone : 33 (0)5 67 69 03 76
  • Additional Phone : -
  • Fax : 33 (0)5 67 69 03 77
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

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