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Diagnosis of primary bone dysplasia (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/08/2017
  • Reference Laboratory Genetics
  • Reference Laboratory Genetics
  • Calle Pablo Iglesias 57
  • Director of laboratory : -
  • More information
  • Phone : 34 932593700
  • Additional Phone : -
  • Fax : -
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Last update: August 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (86)

Quality management


EQA scheme(s) organized by GenQA

Skeletal dysplasia
2020, 2021
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