Orphanet: Diagnóstico de la poliposis juvenil generalizadapoliposis juvenil coli genes SMAD4 y BMPR1A
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Diagnosis of generalized juvenile polyposis/juvenile polyposis coli (SMAD4 and BMPR1A genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/10/2014
  • 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: October 2014

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (2)
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