Orphanet: Molecular and functional diagnosis of COFS Syndrome ERCC6, ERCC2, ERCC5, ERCC1 and ERCC4 gene

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Molecular and functional diagnosis of COFS Syndrome (ERCC6, ERCC2, ERCC5, ERCC1 and ERCC4 gene)

  • Laboratorium DNA Repair
  • Afdeling Moleculaire Genetica
  • Erasmus MC - Erasmus Medisch Centrum
  • 's-Gravendijkwal 230
  • Director of laboratory : Pr W. [Wim] VERMEULEN
  • More information
  • Phone : +31 (0)10 704 3199
  • Additional Phone : -
  • Fax : +31 (0)10 704 4743
  • Website
  • Contact
Last update: May 2017

Responsible of diagnostic test


Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Biochemical genetics
Analyte / Enzyme assay
Protein expression
Protein expression
Western Blot

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (5)
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.