Orphanet: Diagnosi della bassa statura sproporzionatasindromica e displasie scheletriche [pannello di geni]

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Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]

  • Phone : 39 0382 1753184
  • Additional Phone : 39 0382 1753185
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Last update: July 2019

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 (337)
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