Orphanet: Diagn�stico de hipofosfatasia gen ALPL exones 6, 9, 10 y 11
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Diagnosis of hypophosphatasia (ALPL gene / exons 6, 9, 10 and 11)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/10/2014
  • 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
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

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