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Diagnosis of CDG (Isoelectric focusing, enzyme activity, thin layer chromatography, HPLC / genes: ALG1-3, ALG6, ALG8, ALG9, ALG12, DPAGT1, DPM1, MPDU1, MPI, PMM2)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/05/2009
  • Klinik fr Kinderheilkunde I - Arbeitsgruppe Glykosylierungsdefekte
  • Dietmar-Hopp-Stoffwechselzentrum
  • Im Neuenheimer Feld 669
  • 69120 HEIDELBERG
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)622156 4817
  • Additional Phone : -
  • Fax : 49 (0)6221 56 4339
  • Website
Last update: May 2009

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Immunology
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List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (11)
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.