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Molecular diagnosis of Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia and Craniosynostosis type Muenke (FGFR3 gene)

  • GENOMED, Diagnsticos de Medicina Molecular
  • Instituto de Medicina Molecular - Faculdade de Medicina da Universidade de Lisboa
  • Faculdade de Medicina da Universidade de Lisboa
  • Av. Professor Egas Moniz
  • 1649-028 LISBOA
  • PORTUGAL
  • Director of laboratory : Dr Teresa C PORTA NOVA
  • More information
  • Phone : 351 217 999 501
  • Additional Phone : -
  • Fax : 351 217 999 500
  • Website
  • Contact
Last update: April 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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List of diseases and genes

List of diseases tested (2)
List of genes tested (including panels) (1)
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.