Orphanet: Diagnostik von Krankheiten mit verminderter Knochendichte und defekter Knochenmineralisation COL1A1, COL1A2, LRP5, WNT1, ALPL, PLS3 und LEPRE1 Gen
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Diagnosis of primary bone dysplasias with decreased bone density and defective bone mineralization (COL1A1, COL1A2, LRP5, WNT1, ALPL, PLS3, and LEPRE1 gene)

  • Zentrum für Medizinische Genetik
  • Hanusch Krankenhaus
  • Heinrich-Collin-Straße 30
  • 1140 WIEN
  • AUSTRIA
  • Director of laboratory : -
  • More information
  • Phone : +43 (0)1 910 21 84580
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: September 2019

Responsible of diagnostic test

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)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

OI (Osteogenesis imperfecta)
2018
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