Orphanet: Diagnostik der Chondrodysplasia punctata Gene: ARSE, EBP, GNPAT und PEX7
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Diagnosis of chondrodysplasia punctata (ARSE, EBP, GNPAT, PEX7 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/07/2014
  • diagenos
  • Humangenetische Praxis Osnabrück
  • Praxis Dres. Gencik
  • Caprivistr. 30
  • 49076 OSNABRÜCK
  • GERMANY
  • Director of laboratory : Dr Anna GENCIK
  • More information
  • Phone : 49 (0)541 432761
  • Additional Phone : -
  • Fax : 49 (0)541 80019905
  • Website
  • Contact
Last update: July 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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.