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Diagnosis of Treacher-Collins syndrome (TCOF1, POLR1D and POLR1C genes)

  • Phone : 34 943 004 526
  • Additional Phone : -
  • Fax : -
  • Website
Last update: October 2016

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (3)
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.