Orphanet: Diagnostik der CDG Isoelektrischen Fokussierung, Enzymaktivit�ten, D�nnschichtchromatographie, HPLC Gene: ALG1 3, ALG6, ALG8, ALG9, ALG12, DPAGT1, DPM1, MPDU1, MPI, PMM2

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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)

  • Klinik fr Kinderheilkunde I - Stoffwechsellabor
  • Dietmar-Hopp-Stoffwechselzentrum
  • Im Neuenheimer Feld 669
  • 69120 HEIDELBERG
  • Director of laboratory : Dr Jrgen G OKUN
  • More information
  • Phone : 49 (0)6221 56 8276
  • Additional Phone : -
  • Fax : 49 (0)6221 56 5565
  • Website
  • Contact
Last update: June 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

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

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.