Orphanet: Diagnosi molecolare dell_ipofosfatasia gene ALPL
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Molecular diagnosis of hypophosphatasia (ALPL gene)

  • U.O.C. Genetica Medica
  • IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
  • Viale Padre Pio 7
  • 71013 SAN GIOVANNI ROTONDO (FG)
  • ITALY
  • Director of laboratory : Dr Marco CASTORI
  • More information
  • Phone : 39 0882 416288
  • Additional Phone : -
  • Fax : 39 0882 411616
  • Website
  • Contact
Last update: July 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
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.