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Molecular diagnosis of Chondrodysplasia Punctata (EBP, PEX7, DHAPAT, AGPS and ARSE genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 11/05/2011
  • Exeter Molecular Genetics Laboratory (part of the Peninsula Regional Genetics Service)
  • The Royal Devon and Exeter NHS Foundation Trust
  • Royal Devon and Exeter Hospital - Wonford site
  • RILD Building, Barrack Road
  • Director of laboratory : Dr Sian ELLARD
  • More information
  • Phone : 44 (0)1392 408 229
  • Additional Phone : -
  • Fax : 44 (0)1392 406 121
  • Website
  • Contact
Last update: May 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (4)

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.