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Diagnosis of Congenital Disorder of Glycosylation type Ia, Ib, Ic, If, Ig, Ih, Ii, Iid, Iif, Iik, Iim, Iio, Ij, Im, Io, Iq, Is, It, Iv and IIc (PMM2, MPI, ALG6, MPDU1, ALG12, ALG8, ALG2, B4GALT1, SLC35A1, TMEM165, SLC35A2, CCDC115, DPAGT1, DOLK, DPM3, SRD5A3, ALG13, PGM1, NGLY1 and SLC35C1 gene)

  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
  • Afdeling Genetica
  • Radboudumc - Radboud universitair medisch centrum
  • Geert Grooteplein-Zuid 10
  • 6525 GA NIJMEGEN
  • Director of laboratory : Dr H.G. [Helger] IJNTEMA
  • More information
  • Phone : +31 (0)24 361 3799
  • Additional Phone : -
  • Fax : +31 (0)24 361 6658
  • Website
  • Contact
Last update: August 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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