Orphanet: Diagnostic de l_aspartylglucosaminurie Panel
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Diagnosis of aspartylglycosaminuria (Panel)

  • Service Maladies héréditaires du métabolisme, dépistage néonatal et biologie foeto-maternelle
  • Centre de Biologie et Pathologie Est
  • CHU de Lyon HCL - GH Est
  • 59 Boulevard Pinel
  • 69677 BRON CEDEX
  • FRANCE
  • Director of laboratory : Dr Cécile ACQUAVIVA-BOURDAIN
  • More information
  • Phone : 33 (0)4 72 12 96 32
  • Additional Phone : -
  • Fax : 33 (0)4 72 12 97 20
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay
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