Orphanet: Diagn�stico molecular de holoprosencefalia genes SHH, PTCH1, SIX3, TDGF1, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL secuenciaci�n completa
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Diagnosis of holoprosencephaly (panel)

  • Instituto de Medicina Genmica
  • IMEGEN - Delegacin Valencia
  • Calle Catedrtico Agustn Escardino, 9
  • 46980 PATERNA
  • SPAIN
  • Director of laboratory : Dr Juan LPEZ SILES
  • More information
  • Phone : 34 963212340
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: March 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
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