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Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/06/2018
  • Genome Diagnostics Laboratory
  • Department of Pediatric Laboratory Medicine
  • The Hospital for Sick Children and University of Toronto
  • 555 University Avenue
  • Director of laboratory : Dr Peter RAY
  • More information
  • Phone : 1(416)-813-7200x1
  • Additional Phone : -
  • Fax : 1(416)-813-7732
  • Website
Last update: June 2018


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
Array based techniques

List of diseases and genes (Panel description)

List of diseases tested (83)

Additional information

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.