Orphanet: Cutis Laxa and Geroderma osteodysplasticum gene package ELN, FBLN4=EFEMP2, FBLN5, LTBP4, ATP6V0A2, ALDH18A1, TALDO1, RIN2, PYCR1, SCYL1BP1=GORAB, ATP7A, COG7 genes
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Cutis Laxa and Geroderma osteodysplasticum gene package (ELN, FBLN4(=EFEMP2), FBLN5, LTBP4, ATP6V0A2, ALDH18A1, TALDO1, RIN2, PYCR1, SCYL1BP1(=GORAB), ATP7A, COG7 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 22/08/2016
  • Centrum voor Medische Genetica
  • UZ Gent
  • Center for Medical Genetics Gent
  • C. Heymanslaan 10 (Entrance 34 (Medical Research Building))
  • 9000 GENT
  • BELGIUM
  • Director of laboratory : Pr Bruce POPPE
  • More information
  • Phone : +32 (0)9 332 36 03
  • Additional Phone : -
  • Fax : +32 (0)9 332 49 70
  • Website
  • Contact
Last update: August 2016

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing

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.